MCID: CNG006
MIFTS: 60

Congenital Hypothyroidism

Categories: Rare diseases, Genetic diseases, Endocrine diseases, Immune diseases

Aliases & Classifications for Congenital Hypothyroidism

Summaries for Congenital Hypothyroidism

NIH Rare Diseases : 50 congenital hypothyroidism is a condition that affects infants from birth and results from a partial or complete loss of thyroid function (hypothyroidism). the thyroid gland makes hormones that play an important role in regulating growth, brain development, and metabolism in the body. congenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. in the united states and many other countries, all newborns are tested for congenital hypothyroidism as part of newborn screening. if untreated, congenital hypothyroidism can lead to intellectual disability and abnormal growth. if treatment begins in the first month after birth, infants usually develop normally. treatment involves medication to replace the missing thyroid hormones, such as levothyroxine. most cases of congenital hypothyroidism occur in people with no history of the disorder in their family. about 15-20% of cases are due to an underlying genemutation. rarely, congenital hypothyroidism can be a symptom included in a larger genetic disorder called a syndrome. last updated: 2/19/2016

MalaCards based summary : Congenital Hypothyroidism, also known as cretinism, is related to hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia and hypothyroidism, congenital, nongoitrous 4, and has symptoms including short stature, macroglossia and optic atrophy. An important gene associated with Congenital Hypothyroidism is TPO (Thyroid Peroxidase), and among its related pathways/superpathways are Allograft rejection and Insulin secretion. The drugs Hormones and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include thyroid, brain and testes, and related phenotypes are endocrine/exocrine gland and growth/size/body region

Genetics Home Reference : 25 Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck. It makes iodine-containing hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). People with congenital hypothyroidism have lower-than-normal levels of these important hormones.

Disease Ontology : 12 A hypothyroidism that is present at birth.

Wikipedia : 72 Congenital hypothyroidism (CH) is a condition of thyroid hormone deficiency present at birth.... more...

Related Diseases for Congenital Hypothyroidism

Diseases in the Hypothyroidism family:

Hypothyroidism, Congenital, Due to Thyroid Dysgenesis or Hypoplasia Congenital Hypothyroidism
Central Congenital Hypothyroidism Hypothyroidism Due to Iodide Transport Defect
Congenital Hypothyroidism, Duoxa2-Related Congenital Hypothyroidism, Duox2-Related
Congenital Hypothyroidism, Iyd-Related Congenital Hypothyroidism, Tpo-Related
Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs
Congenital Hypothyroidism Due to Transplacental Passage of Maternal Tsh-Binding Inhibitory Antibodies

Diseases related to Congenital Hypothyroidism via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 172, show less)
id Related Disease Score Top Affiliating Genes
1 hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia 31.8 FOXE1 NKX2-1 PAX8 TG TSHR
2 hypothyroidism, congenital, nongoitrous 4 30.7 POU1F1 TG TPO TSHB
3 pseudohypoparathyroidism 30.0 TG TPO TSHR
4 kidney disease 29.7 NKX2-1 TG TSHR
5 diabetes mellitus, neonatal, with congenital hypothyroidism 12.2
6 central congenital hypothyroidism 12.1
7 idiopathic congenital hypothyroidism 11.9
8 cretinism athyreotic 11.8
9 congenital hypothyroidism, duox2-related 11.8
10 congenital hypothyroidism, iyd-related 11.8
11 congenital hypothyroidism, tpo-related 11.8
12 choreoathetosis, hypothyroidism, and neonatal respiratory distress 11.8
13 genetic transient congenital hypothyroidism 11.7
14 congenital hypothyroidism due to maternal intake of antithyroid drugs 11.7
15 congenital hypothyroidism due to transplacental passage of maternal tsh-binding inhibitory antibodies 11.7
16 congenital hypothyroidism, duoxa2-related 11.7
17 thyroid dyshormonogenesis 1 11.5
18 chediak-higashi syndrome 11.4
19 thyroid dyshormonogenesis 2a 11.4
20 hypothyroidism, congenital, nongoitrous, 1 11.2
21 hypothyroidism, central, and testicular enlargement 11.2
22 thyroid dyshormonogenesis 6 11.1
23 pendred syndrome 11.1
24 bamforth syndrome 11.0
25 central hypoventilation syndrome, congenital 11.0
26 hypothyroidism 10.9
27 macroglossia 10.9
28 undifferentiated pleomorphic sarcoma 10.9
29 cluster headache 10.8
30 neutropenia, cyclic 10.8
31 cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 10.8
32 thyroid dyshormonogenesis 5 10.7
33 thyroid dyshormonogenesis 4 10.7
34 hypothyroidism, congenital, nongoitrous, 6 10.7
35 thyroid dyshormonogenesis 3 10.7
36 peripheral resistance to thyroid hormones 10.7
37 maxillary sinus adenoid cystic carcinoma 10.6 TG TPO
38 rhabdomyosarcoma, embryonal, 2 10.6 TG TPO
39 pulmonary neuroendocrine tumor 10.6 PAX8 TG
40 thyroiditis 10.6
41 mature teratoma 10.5 NKX2-1 TG
42 demyelinating polyneuropathy 10.5 NKX2-1 TG
43 chronic polyneuropathy 10.5 TG TSHR
44 tick paralysis 10.5 TG TPO
45 potter's syndrome 10.5 PAX8 TSHR
46 chronic frontal sinusitis 10.4 TG TPO
47 urethral villous adenoma 10.4 NKX2-1 PAX8
48 congenital coronary artery aneurysm 10.4 NKX2-5 PAX8
49 tibia absent polydactyly arachnoid cyst 10.4 NKX2-1 PAX8 TG
50 echinostomiasis 10.4 DUOX2 TG
51 athyreosis 10.4
52 color blindness 10.4 TG TPO
53 parachordoma 10.3 NKX2-1 TG TSHR
54 thyroid ectopia 10.3
55 amelogenesis imperfecta, hypomaturation type, iia6 10.3 TG TPO TSHR
56 cerebral lipidosis 10.3 TG TPO TSHR
57 conjunctival deposit 10.3 TG TPO TSHR
58 fallopian tube leiomyoma 10.3 NKX2-1 TG
59 endemic goiter 10.3 TG TPO TSHR
60 lung occult large cell carcinoma 10.3 TG TPO TSHR
61 nodular prostate 10.3 TG TPO TSHR
62 combined cellular and humoral immune defects with granulomas 10.3 TG TPO TSHR
63 benign shuddering attacks 10.3 PAX8 SLC5A5 TG
64 cd3zeta deficiency 10.3 TG TPO TSHR
65 lymphoma 10.3 TG TPO TSHR
66 skin meningioma 10.2 TG TPO TSHR
67 pulsating exophthalmos 10.2 TG TPO TSHR
68 parietal lobe neoplasm 10.2 FOXE1 TG
69 iridocyclitis 10.1 TG TSHR
70 c5 deficiency 10.0 FOXE1 TG TPO
71 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.0 DUOX2 PAX8 TG TPO
72 phenylketonuria 10.0
73 goiter 10.0
74 familial thyroid dyshormonogenesis 9.9
75 congenital adrenal hyperplasia 9.8
76 meningovascular neurosyphilis 9.8 NKX2-1 PAX8 TG TPO TSHR
77 bladder diffuse clear cell adenocarcinoma 9.8 NKX2-1 PAX8 TG TPO TSHR
78 gastrointestinal system cancer 9.8 NKX2-1 PAX8 TG TPO TSHR
79 chorea, hereditary benign 9.8 NKX2-1 PAX8 TG TPO TSHR
80 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 9.8 NKX2-1 PAX8 TG TPO TSHR
81 down syndrome 9.8
82 myxedema 9.7
83 thyrotropin-releasing hormone deficiency 9.7
84 resistance to thyrotropin-releasing hormone syndrome 9.7
85 hypothyroidism, congenital, nongoitrous, 3 9.7
86 muscular pseudohypertrophy-hypothyroidism syndrome 9.7
87 hypothyroidism due to deficient transcription factors involved in pituitary development or function 9.7
88 thyroid hormone metabolism, abnormal 9.7
89 bamforth-lazarus syndrome 9.7
90 nephrogenic systemic fibrosis 9.7 PAX8 SLC5A5 TG TPO TSHR
91 infertility 9.7
92 dwarfism 9.7
93 galactosemia 9.7
94 phace syndrome 9.7
95 obesity 9.7
96 hypertrichosis 9.6
97 neonatal diabetes mellitus 9.6
98 graves' disease 9.6
99 hyperthyroidism 9.6
100 hydrops fetalis 9.6
101 endotheliitis 9.6
102 neonatal hypothyroidism 9.6
103 homocystinuria 9.6
104 hyperthyroxinemia 9.6
105 precocious puberty 9.6
106 birth defects 9.6
107 biotinidase deficiency 9.6
108 adenohypophysitis 9.5 DUOX2 IYD SLC5A5 TG TPO
109 background diabetic retinopathy 9.5 TG TPO TSHB TSHR
110 molybdenum cofactor deficiency b 9.5 POU1F1 TSHB
111 cloacogenic carcinoma 9.5 TG TPO TSHB TSHR
112 diabetes mellitus, insulin-dependent, 12 9.5 TG TPO TSHB TSHR
113 primrose syndrome 9.5
114 hepatitis 9.5
115 dysalbuminemic hyperthyroxinemia 9.5
116 osteopetrosis 9.5
117 intellectual disability 9.5
118 attention deficit-hyperactivity disorder 9.5
119 prader-willi syndrome 9.5
120 spinal muscular atrophy 9.5
121 esophagitis 9.5
122 beckwith-wiedemann syndrome 9.5
123 wagr syndrome 9.5
124 conjunctivitis 9.5
125 cleidocranial dysplasia 9.5
126 lissencephaly 9.5
127 diencephalic syndrome 9.5
128 multinodular goiter 9.5
129 hypertrophic pyloric stenosis 9.5
130 muscular atrophy 9.5
131 ataxia 9.5
132 brachydactyly 9.5
133 pyloric stenosis 9.5
134 gigantism 9.5
135 hypotonia 9.5
136 cystic fibrosis 9.5
137 pierre robin syndrome 9.5
138 nephrocalcinosis 9.5
139 neuronitis 9.5
140 townes-brocks syndrome 9.5
141 lung disease 9.5
142 hypoganglionosis 9.5
143 ptosis 9.5
144 ichthyosis 9.5
145 nervous system disease 9.5
146 autosomal recessive congenital ichthyosis 9.5
147 kernicterus 9.5
148 blepharophimosis 9.5
149 acromegaly 9.5
150 hypopituitarism 9.5
151 esophageal atresia 9.5
152 triple x syndrome 9.5
153 cardiogenic shock 9.5
154 cutis marmorata telangiectatica congenita 9.5
155 neonatal respiratory failure 9.5
156 papillary carcinoma 9.5
157 slipped capital femoral epiphysis 9.5
158 respiratory failure 9.5
159 central nervous system disease 9.5
160 hyperphenylalaninemia 9.5
161 peters-plus syndrome 9.5
162 cerebellar hypoplasia 9.5
163 megacolon 9.5
164 polycystic kidney disease 9.5
165 psychogenic movement 9.2 POU1F1 TSHB
166 non-distal trisomy 10q 9.2 FOXE1 NKX2-1 PAX8 TG TPO TSHR
167 panhypophysitis 8.9 FOXE1 NKX2-1 NKX2-5 PAX8 TG TSHR
168 peritoneal mesothelioma 8.8 FOXE1 NKX2-1 PAX8 SLC5A5 TG TPO
169 otosclerosis 8.6 DUOX2 IYD NKX2-1 PAX8 SLC5A5 TG
170 fibrolamellar carcinoma 8.0 DUOX2 FOXE1 NKX2-1 PAX8 TG TPO
171 cholesterol embolism 6.3 DUOX2 FOXE1 GLIS3 IYD NKX2-1 NKX2-5
172 primary bacterial infectious disease 5.8 DUOX2 FOXE1 GLIS3 IYD NKX2-1 NKX2-5

Graphical network of the top 20 diseases related to Congenital Hypothyroidism:



Diseases related to Congenital Hypothyroidism

Symptoms & Phenotypes for Congenital Hypothyroidism

Human phenotypes related to Congenital Hypothyroidism:

32 (showing 43, show less)
id Description HPO Frequency HPO Source Accession
1 short stature 32 frequent (33%) HP:0004322
2 macroglossia 32 hallmark (90%) HP:0000158
3 optic atrophy 32 occasional (7.5%) HP:0000648
4 umbilical hernia 32 hallmark (90%) HP:0001537
5 nephrolithiasis 32 occasional (7.5%) HP:0000787
6 intellectual disability, severe 32 frequent (33%) HP:0010864
7 coarse facial features 32 frequent (33%) HP:0000280
8 global developmental delay 32 frequent (33%) HP:0001263
9 depression 32 frequent (33%) HP:0000716
10 cataract 32 occasional (7.5%) HP:0000518
11 constipation 32 hallmark (90%) HP:0002019
12 hoarse cry 32 frequent (33%) HP:0001615
13 hypertension 32 occasional (7.5%) HP:0000822
14 arrhythmia 32 occasional (7.5%) HP:0011675
15 hypogonadism 32 frequent (33%) HP:0000135
16 goiter 32 occasional (7.5%) HP:0000853
17 intestinal obstruction 32 occasional (7.5%) HP:0005214
18 hypothyroidism 32 hallmark (90%) HP:0000821
19 tracheoesophageal fistula 32 occasional (7.5%) HP:0002575
20 muscular hypotonia 32 hallmark (90%) HP:0001252
21 feeding difficulties in infancy 32 hallmark (90%) HP:0008872
22 hypothermia 32 frequent (33%) HP:0002045
23 abdominal distention 32 hallmark (90%) HP:0003270
24 anosmia 32 frequent (33%) HP:0000458
25 anxiety 32 frequent (33%) HP:0000739
26 hypotension 32 occasional (7.5%) HP:0002615
27 angiokeratoma corporis diffusum 32 frequent (33%) HP:0001071
28 hearing impairment 32 occasional (7.5%) HP:0000365
29 prolonged neonatal jaundice 32 hallmark (90%) HP:0006579
30 sinusitis 32 frequent (33%) HP:0000246
31 paresthesia 32 occasional (7.5%) HP:0003401
32 depressed nasal ridge 32 frequent (33%) HP:0000457
33 sleep disturbance 32 hallmark (90%) HP:0002360
34 large posterior fontanelle 32 hallmark (90%) HP:0004491
35 palpebral edema 32 frequent (33%) HP:0100540
36 oral cleft 32 occasional (7.5%) HP:0000202
37 abnormality of epiphysis morphology 32 occasional (7.5%) HP:0005930
38 abnormality of vision 32 occasional (7.5%) HP:0000504
39 reduced tendon reflexes 32 frequent (33%) HP:0001315
40 anterior hypopituitarism 32 occasional (7.5%) HP:0000830
41 abnormality of the hair 32 frequent (33%) HP:0001595
42 abnormality of the pericardium 32 occasional (7.5%) HP:0001697
43 thyroid dysgenesis 32 hallmark (90%) HP:0008188

MGI Mouse Phenotypes related to Congenital Hypothyroidism:

44 (showing 5, show less)
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.96 DUOX2 FOXE1 GLIS3 NKX2-1 NKX2-5 PAX8
2 growth/size/body region MP:0005378 9.9 DUOX2 FOXE1 GLIS3 NKX2-1 NKX2-5 PAX8
3 craniofacial MP:0005382 9.62 FOXE1 NKX2-5 PAX8 POU1F1
4 hearing/vestibular/ear MP:0005377 9.35 DUOX2 PAX8 POU1F1 TPO TSHR
5 homeostasis/metabolism MP:0005376 9.32 PAX8 POU1F1 TG TPO TSHR DUOX2

Drugs & Therapeutics for Congenital Hypothyroidism

Drugs for Congenital Hypothyroidism (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 17, show less)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones Phase 4,Phase 3,Early Phase 1
2 Pharmaceutical Solutions Phase 4
3
Flutamide Approved Phase 3 13311-84-7 3397
4 Androgen Antagonists Phase 3
5 Androgens Phase 3
6 Antineoplastic Agents, Hormonal Phase 3
7 Contraceptive Agents Phase 3
8 Hormone Antagonists Phase 3
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
10 Luteolytic Agents Phase 3
11 Triptorelin Pamoate Phase 3
12 Radiopharmaceuticals Phase 1
13 Sodium Pertechnetate Tc 99m Phase 1
14
Iodine Investigational 7553-56-2 807
15 cadexomer iodine
16 Antibodies Early Phase 1
17 Immunoglobulins Early Phase 1

Interventional clinical trials:

(showing 16, show less)

id Name Status NCT ID Phase Drugs
1 Phase 4 Study in Secondary Hypothyroidism: Body Weight Adapted Thyroxin Treatment and Triiodothyronine Supplementation Completed NCT00360074 Phase 4 Thyroxin, Triiodothyronine
2 Randomized Crossover Trial for the Evaluation of the Possible Effects in the Intestine of Two Different Pharmaceutical Forms of L - Thyroxine in Patients With Primary Acquired Hypothyroidism Recruiting NCT02917863 Phase 4 L-Thyroxine (tablet, per os);L-Thyroxine (oral drops, solution)
3 Triptorelin, Flutamide, and External-Beam Radiation Therapy or External-Beam Radiation Therapy Alone in Treating Patients With Stage II or Stage III Prostate Cancer Unknown status NCT00104741 Phase 3 flutamide;triptorelin
4 Generic vs. Name-Brand Levothyroxine Completed NCT00403390 Phase 3 Levothyroxine versus Levothyroxine
5 A Study of 99m Tc Pertechnetate Produced in High Energy Cyclotron in Patients With Thyroid Scan Indication Recruiting NCT02307175 Phase 1
6 Iodine Status in Pregnant Women and Their Newborns: is Congenital Hypothyroidism Related to Iodine Deficiency in Pregnancy? Unknown status NCT00505479
7 Measurement of Hormonal Concentration in Chylothorax Fluid in Infants With Congenital Chylothorax Unknown status NCT00267345
8 TG Gene Mutations and Congenital Hypothyroidism Completed NCT00493103
9 Targeted Levothyroxine Dosing in Infants With Congenital Hypothyroidism Completed NCT02374593 Levothyroxine
10 Diagnosis and Follow-up of Patients With Subclinical Hypothyroidism Completed NCT00497575
11 The Effects of Iodized Salt on Cognitive Development in Ethiopia Completed NCT01349634
12 Clinical Evaluation of NeoPlex4 Assay and NeoPlex System Completed NCT01488721
13 Clinical and Genetic Analysis in Congenital Hypothyroidism Due to Thyroid Dysgenesis. Active, not recruiting NCT01916018
14 Recurrent Pregnancy Loss and Thyroid Disease Enrolling by invitation NCT03106935 Early Phase 1 Levothyroxine
15 Subjective Factors of Polymedication in the Elderly: a Qualitative Study of the Perceptions of Patients, Relatives and Referent Physicians.(DOSAGE) Not yet recruiting NCT03309228
16 The Prevalence of Hearing Loss Among Children With Congenital Hypothyroidism Withdrawn NCT01223638

Search NIH Clinical Center for Congenital Hypothyroidism

Cochrane evidence based reviews: congenital hypothyroidism

Genetic Tests for Congenital Hypothyroidism

Genetic tests related to Congenital Hypothyroidism:

id Genetic test Affiliating Genes
1 Congenital Hypothyroidism 29 24

Anatomical Context for Congenital Hypothyroidism

MalaCards organs/tissues related to Congenital Hypothyroidism:

39
Thyroid, Brain, Testes, Bone, Heart, Prostate, Kidney

Publications for Congenital Hypothyroidism

Articles related to Congenital Hypothyroidism:

(showing 773, show less)
id Title Authors Year
1
Intellectual development in preschool children with early treated congenital hypothyroidism. ( 28690988 )
2017
2
Hormonal and testicular changes in rats submitted to congenital hypothyroidism in early life. ( 27793676 )
2017
3
Screening of congenital hypothyroidism in preterm, low birth weight and very low birth weight neonates: A systematic review. ( 28811156 )
2017
4
Evaluation of neurodevelopment of children with congenital hypothyroidism by the Denver Developmental Screening Test. ( 28917084 )
2017
5
Intelligence Quotient at the Age of 6 years of Iranian Children with Congenital Hypothyroidism. ( 28952455 )
2017
6
Homozygous DUOXA2 mutation (p.Tyr138(*)) in a girl with congenital hypothyroidism and her apparently unaffected brother: Case report and review of the literature. ( 28626131 )
2017
7
Are lower TSH cutoffs in neonatal screening for congenital hypothyroidism warranted? ( 28694389 )
2017
8
Prevalence of Congenital Hypothyroidism in Northern Border Region of Kingdom of Saudi Arabia. ( 28285292 )
2017
9
A Frequent Oligogenic Involvement in Congenital Hypothyroidism. ( 28444304 )
2017
10
Fighting against congenital hypothyroidism - Old soldiers never die. ( 28916230 )
2017
11
Primary Care Provider Management of Congenital Hypothyroidism Identified Through Newborn Screening. ( 28868522 )
2017
12
Congenital Hypothyroidism: Facts, Facets & Therapy. ( 28176629 )
2017
13
Influence of topical iodine-containing antiseptics used during delivery on recall rate of congenital hypothyroidism screening program. ( 28809751 )
2017
14
Next-generation sequencing analysis of twelve known causative genes in congenital hypothyroidism. ( 28215547 )
2017
15
Cognitive profiles of patients with early detected and treated congenital hypothyroidism. ( 28097835 )
2017
16
Congenital hypothyroidism due to ectopic sublingual thyroid gland in Prader-Willi Syndrome: a case report. ( 28938886 )
2017
17
Provider variability in the initial diagnosis and treatment of congenital hypothyroidism. ( 28328531 )
2017
18
Prenatal diagnosis and successful intrauterine treatment of severe congenital hypothyroidism associated with fetal goiter. ( 27862717 )
2017
19
Identification and characterization of novel PAX8 mutations in Congenital Hypothyroidism(CH) in a Chinese population. ( 28060725 )
2017
20
Timing of thyroid ultrasonography in the etiological investigation of congenital hypothyroidism. ( 28225993 )
2017
21
Mutation analysis of the NKX2.5 gene in Iranian pediatric patients with congenital hypothyroidism. ( 28749785 )
2017
22
Neonatal screening: 9% of children with filter paper thyroid-stimulating hormone levels between 5 and 10I1IU/mL have congenital hypothyroidism. ( 28738186 )
2017
23
Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant Detection. ( 28898885 )
2017
24
[Characteristics of DUOXA2 gene mutation in children with congenital hypothyroidism]. ( 28100324 )
2017
25
Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism. ( 28633507 )
2017
26
Predictors of transient congenital hypothyroidism in children with eutopic thyroid gland. ( 28690990 )
2017
27
Congenital Hypothyroidism: Role of Nuclear Medicine. ( 28237002 )
2017
28
Neuroprotective activity of cannabinoid receptor-2 against oxidative stress and apoptosis in rat pups having experimentally-induced congenital hypothyroidism. ( 28799288 )
2017
29
WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion. ( 28398607 )
2017
30
Etiological evaluation of primary congenital hypothyroidism cases. ( 28747839 )
2017
31
Congenital urogenital abnormalities in children with congenital hypothyroidism. ( 28638814 )
2017
32
TARGETED LEVOTHYROXINE THERAPY FOR TREATMENT OF CONGENITAL HYPOTHYROIDISM. ( 28683242 )
2017
33
DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland. ( 28666341 )
2017
34
Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis. ( 28455095 )
2017
35
Intrafamilial Phenotypic Variability and Consequences of Non-Compliance with Treatment in Congenital Adrenal Hyperplasia and Congenital Hypothyroidism within a Single Familya8c. ( 28359061 )
2017
36
Three-year follow-up of children with abnormal newborn screening results for congenital hypothyroidism. ( 28412200 )
2017
37
Effects of L-thyroxine treatment on heart functions in infants with congenital hypothyroidism. ( 28358714 )
2017
38
Neurodevelopmental Outcome of Children with Congenital Hypothyroidism Diagnosed in a National Screening Program in Turkey. ( 28368265 )
2017
39
A Novel Mutation (S54C) of the PAX8 Gene in a Family with Congenital Hypothyroidism and a High Proportion of Affected Individuals. ( 27207603 )
2016
40
High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism. ( 27166716 )
2016
41
Liothyronine Improves Biochemical Control of Congenital Hypothyroidism in Patients with Central Resistance to Thyroid Hormone. ( 27178621 )
2016
42
Evaluation of the revised New Zealand national newborn screening protocol for congenital hypothyroidism. ( 27696498 )
2016
43
Transient versus Permanent Congenital Hypothyroidism after the Age of 3 Years in Infants Detected on the First versus Second Newborn Screening Test in Oregon, USA. ( 27595483 )
2016
44
Congenital hypothyroidism with delayed TSH elevation in low-birth-weight infants: incidence, diagnosis and management. ( 27511826 )
2016
45
Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism. ( 26886089 )
2016
46
Congenital hypothyroidism with delayed thyroid-stimulating hormone elevation in premature infants born at less than 30 weeks gestation. ( 27906195 )
2016
47
A Novel Thyrotropin-Releasing Hormone Receptor Missense Mutation (P81R) in Central Congenital Hypothyroidism. ( 26735259 )
2016
48
Reference intervals for thyroid stimulating hormone and free thyroxine derived from neonates undergoing routine screening for congenital hypothyroidism at a university teaching hospital in Nairobi, Kenya: a cross sectional study. ( 27216400 )
2016
49
Heterozygous Mutations of the DUOXA2 and DUOX2 Genes in Dizygotic Twins with Congenital Hypothyroidism. ( 27349010 )
2016
50
The incidence of congenital hypothyroidism and its determinants from 2012 to 2014 in Shadegan, Iran: a case-control study. ( 27283138 )
2016
51
CONGENITAL HYPOTHYROIDISM AND BONE REMODELING CYCLE. ( 27840329 )
2016
52
National Survey on Concepts for Congenital Hypothyroidism Screening of NICUs in Japan. ( 27192394 )
2016
53
Perfluoroalkyl substances in serum from South Korean infants with congenital hypothyroidism and healthy infants - Its relationship with thyroid hormones. ( 26950028 )
2016
54
DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population. ( 26709262 )
2016
55
Respiratory Distress, Congenital Hypothyroidism and Hypotonia in a Newborn. ( 27595265 )
2016
56
Mutation screening of the TPO gene in a cohort of 192 Chinese patients with congenital hypothyroidism. ( 27173810 )
2016
57
A baby with congenital hypothyroidism born to a hypothyroid mother who expressed undiagnosed thyroid stimulation blocking antibody. ( 27777909 )
2016
58
Compound heterozygous mutations (p.T561M and c.2422delT) in the TPO gene associated with congenital hypothyroidism. ( 27135621 )
2016
59
Congenital hypothyroidism - Polish recommendations for therapy, treatment monitoring, and screening tests in special categories of neonates with increased risk of hypothyroidism. ( 27828692 )
2016
60
Detecting congenital hypothyroidism with newborn screening: the relevance of thyroid-stimulating hormone cutoff values. ( 28024960 )
2016
61
Case Report: The Specter of Untreated Congenital Hypothyroidism in Immigrant Families. ( 27244801 )
2016
62
The role of season and climate in the incidence of congenital hypothyroidism in Kerman province, Southeastern Iran. ( 27941171 )
2016
63
Biochemical, radiological, and genetic characterization of congenital hypothyroidism in Abu Dhabi, United Arab Emirates. ( 27060741 )
2016
64
Poorly Controlled Congenital Hypothyroidism due to an Underlying Allgrove Syndrome. ( 27255745 )
2016
65
The Incidence and Clinical Features of Dual Thyroid Ectopia in Congenital Hypothyroidism. ( 26990941 )
2016
66
Analysis of the T354P mutation of the sodium/iodide cotransporter gene in children with congenital hypothyroidism due to dyshormonogenesis. ( 27169104 )
2016
67
Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort. ( 27373559 )
2016
68
Frequency of thyroid status monitoring in the first year of life and predictors for more frequent monitoring in infants with congenital hypothyroidism. ( 27089409 )
2016
69
Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism. ( 26777470 )
2016
70
Thyroxine-Based Screening for Congenital Hypothyroidism in Neonates with Down Syndrome. ( 26995701 )
2016
71
Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism. ( 27061120 )
2016
72
High prevalence of DUOX2 gene mutations among children with congenital hypothyroidism in central China. ( 27498126 )
2016
73
Genetic and functional analysis of two missense DUOX2 mutations in congenital hypothyroidism and goiter. ( 27421132 )
2016
74
Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through puberty. ( 26742565 )
2016
75
Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients. ( 27637299 )
2016
76
Growth development in children with congenital hypothyroidism: the effect of screening and treatment variables-a comprehensive longitudinal study. ( 27477291 )
2016
77
Individualized treatment to optimize eventual cognitive outcome in congenital hypothyroidism. ( 27494505 )
2016
78
The Prevalence, Clinical, and Molecular Characteristics of Congenital Hypothyroidism Caused by DUOX2 Mutations: A Population-Based Cohort Study in Guangzhou. ( 27557340 )
2016
79
Congenital Hypothyroidism: Optimal Initial Dosage and Time of Initiation of Treatment: A Systematic Review. ( 27942261 )
2016
80
Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients. ( 27108200 )
2016
81
Transient congenital hypothyroidism in Turkey: An analysis on frequency and natural course. ( 27086592 )
2016
82
Two novel TSHR gene mutations (p.R528C and c.392+4del4) associated with congenital hypothyroidism. ( 26864598 )
2016
83
Severe hyponatremia and repeated intestinal resections for intestinal dysmotility mimicking congenital aganglionic megacolon due to delay in the diagnosis of congenital hypothyroidism. ( 28164077 )
2016
84
Permanent congenital hypothyroidism with blood spot thyroid stimulating hormone <10a88mU/L. ( 27016213 )
2016
85
Congenital Hypothyroidism: An Unusual Combination of Biochemical Abnormalities. ( 27994903 )
2016
86
Comprehensive screening of eight known causative genes in congenital hypothyroidism with gland-in-situ. ( 27525530 )
2016
87
Permanent and Transient Congenital Hypothyroidism in Hamadan West Province of Iran. ( 28144251 )
2016
88
Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase. ( 26894573 )
2016
89
Positive correlation of thyroid hormones and serum copper in children with congenital hypothyroidism. ( 27267969 )
2016
90
Neonatal Screening for congenital hypothyroidism in Razavi Khorasan Province, Iran. ( 27611842 )
2016
91
Nationwide Evaluation of Congenital Hypothyroidism Screening during Neonatal Extracorporeal Membrane Oxygenation. ( 27639769 )
2016
92
Ethnicity and incidence of congenital hypothyroidism in the capital of Macedonia. ( 27658135 )
2016
93
Blepharophimosis Ptosis Epicanthus Inversus Syndrome With Congenital Hypothyroidism and Brachydactyly in a 7-Year-Old Girl. ( 27115209 )
2016
94
Sonographic evaluation of children with congenital hypothyroidism. ( 26379320 )
2015
95
Early Discrimination between Transient and Permanent Congenital Hypothyroidism in Children with Eutopic Gland. ( 26160341 )
2015
96
Hippocampal Functioning and Verbal Associative Memory in Adolescents with Congenital Hypothyroidism. ( 26539162 )
2015
97
Thyroid gland: TSHR mutations and subclinical congenital hypothyroidism. ( 25707783 )
2015
98
Natural History and Management of Congenital Hypothyroidism with in situ Thyroid Gland. ( 25634148 )
2015
99
Congenital hypothyroidism: recent advances. ( 26313902 )
2015
100
Diagnosis and management of congenital hypothyroidism associated with pseudohypoparathyroidism. ( 25591844 )
2015
101
Factors affecting parent-child relationships one year after positive newborn screening for cystic fibrosis or congenital hypothyroidism. ( 25493463 )
2015
102
Effective Strategy for Newborn Screening for Congenital Hypothyroidism: Authors Reply. ( 26499025 )
2015
103
PAX8 pathogenic variants in Chinese patients with congenital hypothyroidism. ( 26362610 )
2015
104
Mutation screening of DUOX2 in Chinese patients with congenital hypothyroidism. ( 26349762 )
2015
105
Multiple factors influencing the incidence of congenital hypothyroidism detected by neonatal screening. ( 25572470 )
2015
106
Genetic analysis of the paired box transcription factor (PAX8) gene in a cohort of Polish patients with primary congenital hypothyroidism and dysgenetic thyroid glands. ( 25720050 )
2015
107
Newborn screening for congenital hypothyroidism in Henan province, China. ( 26522654 )
2015
108
The evaluation of transient hypothyroidism in patients diagnosed with congenital hypothyroidism. ( 26422840 )
2015
109
Congenital hypothyroidism. ( 25729683 )
2015
110
Recent advances in central congenital hypothyroidism. ( 26416826 )
2015
111
Novel genetic variants in the TPO gene cause congenital hypothyroidism. ( 26174974 )
2015
112
A Homozygous Nonsense Thyroid Peroxidase Mutation (R540X) Consistently Causes Congenital Hypothyroidism in Two Siblings Born to a Consanguineous Family. ( 26777044 )
2015
113
Compound Heterozygous DUOX2 Gene Mutations (c.2335-1G>C/c.3264_3267delCAGC) Associated with Congenital Hypothyroidism. Characterization of Complex Cryptic Splice Sites by Minigene Analysis. ( 26506010 )
2015
114
NEW BORN SCREENING IN PREVENTING CONGENITAL HYPOTHYROIDISM. ( 27004363 )
2015
115
Case Report of GNAS Epigenetic Defect Revealed by a Congenital Hypothyroidism. ( 25802348 )
2015
116
Levothyroxine requirement in congenital hypothyroidism: a 12-year longitudinal study. ( 25762444 )
2015
117
The role of I imaging in the evaluation of infants with mild congenital hypothyroidism. ( 25531155 )
2015
118
Transient congenital hypothyroidism caused by compound heterozygous mutations affecting the NADPH-oxidase domain of DUOX2. ( 26565538 )
2015
119
Screening, diagnosis and management of congenital hypothyroidism: European Society for Paediatric Endocrinology Consensus Guideline. ( 25776656 )
2015
120
Changes in the incidence and etiology of congenital hypothyroidism detected during 30A years of a screening program in central Serbia. ( 26346241 )
2015
121
Effect of atomoxetine on the cognitive functions in treatment of attention deficit hyperactivity disorder in children with congenital hypothyroidism: a pilot study. ( 25896257 )
2015
122
[DUOX2 mutations in children with congenital hypothyroidism]. ( 25616291 )
2015
123
Effective Strategy for Newborn Screening for Congenital Hypothyroidism. ( 26499024 )
2015
124
A Homozygous TPO Gene Duplication (c.1184_1187dup4) Causes Congenital Hypothyroidism in Three Siblings Born to a Consanguineous Family. ( 27617131 )
2015
125
Levothyroxine replacement in primary congenital hypothyroidism: the higher the initial dose the higher the rate of overtreatment. ( 26244672 )
2015
126
Single newborn screen or routine second screening for primary congenital hypothyroidism. ( 26293295 )
2015
127
[Association of thyroperoxidase gene polymorphisms with dyshormonogenesis in congenital hypothyroidism]. ( 26663066 )
2015
128
Final height in Italian patients with congenital hypothyroidism detected by neonatal screening: a 20-year observational study. ( 26511640 )
2015
129
Prolonged ileus in an infant presenting with primary congenital hypothyroidism. ( 25866693 )
2015
130
Evaluation of inflammatory and oxidative biomarkers in children with well-controlled congenital hypothyroidism. ( 25879312 )
2015
131
Spatial Analysis of Neonatal Congenital Hypothyroidism and Nitrate as an Environmental Pollutant in Isfahan Province During 2010-2013. ( 26425331 )
2015
132
Undiagnosed congenital hypothyroidism in a newborn treated with dopamine infusion. ( 25724212 )
2015
133
Evaluation of the tshr gene reveals polymorphisms associated with typical symptoms in primary congenital hypothyroidism. ( 26356361 )
2015
134
Congenital hypothyroidism: etiology and growth-development outcome. ( 25369009 )
2014
135
ENDOCRINOLOGY AND ADOLESCENCE: Congenital Hypothyroidism A clinical update of long-term outcome in young adults. ( 25225479 )
2014
136
Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion. ( 25153578 )
2014
137
High Frequency of DUOX2 Mutations in Transient or Permanent Congenital Hypothyroidism with Eutopic Thyroid Glands. ( 25248169 )
2014
138
Somatic Mutations Are Not Observed by Exome Sequencing of Lymphocyte DNA from Monozygotic Twins Discordant for Congenital Hypothyroidism due to Thyroid Dysgenesis. ( 25277881 )
2014
139
Clinical genetics of congenital hypothyroidism. ( 25231445 )
2014
140
Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutations. ( 25214233 )
2014
141
Functional analyses of C.2268dup in thyroid peroxidase gene associated with goitrous congenital hypothyroidism. ( 24745015 )
2014
142
Identification of deletions in children with congenital hypothyroidism and thyroid dysgenesis with the use of multiplex ligation-dependent probe amplification. ( 25153580 )
2014
143
Incidence of congenital hypothyroidism in the Autonomous Province of Bolzano: benefit of increased iodine intake. ( 25403430 )
2014
144
TRANSCRIPTION FACTOR GLI-SIMILAR 3 (GLIS3): IMPLICATIONS FOR THE DEVELOPMENT OF CONGENITAL HYPOTHYROIDISM. ( 25133201 )
2014
145
A deletion including exon 2 of the TSHR gene is associated with thyroid dysgenesis and severe congenital hypothyroidism. ( 24690939 )
2014
146
Identification of a novel pax8 gene sequence variant in four members of the same family: from congenital hypothyroidism with thyroid hypoplasia to mild subclinical hypothyroidism. ( 25146893 )
2014
147
Congenital Hypothyroidism Long-Term Follow-up Project: Navigating the Rough Waters of a Multi-Center, Multi-State Public Health Project. ( 25403899 )
2014
148
Neonatal screening for congenital hypothyroidism. ( 25231443 )
2014
149
A novel deletion in the thyrotropin Beta-subunit gene identified by array comparative genomic hybridization analysis causes central congenital hypothyroidism in a boy originating from Turkey. ( 25012771 )
2014
150
Indicators of newborn screening for congenital hypothyroidism in Sri Lanka: program challenges and way forward. ( 25212576 )
2014
151
Changing perspectives in screening for congenital hypothyroidism and congenital adrenal hyperplasia. ( 24275619 )
2014
152
One Base Deletion (c.2422delT) in the TPO Gene Causes Severe Congenital Hypothyroidism. ( 25241611 )
2014
153
Mutation screening of the sodium iodide symporter gene in a cohort of 105 China patients with congenital hypothyroidism. ( 25465605 )
2014
154
A nonsense thyrotropin receptor gene mutation (R609X) is associated with congenital hypothyroidism and heart defects. ( 24945425 )
2014
155
The severity of congenital hypothyroidism of central origin should not be underestimated. ( 25347570 )
2014
156
High incidence of congenital hypothyroidism in one region of the republic of macedonia. ( 25741212 )
2014
157
Earlier re-evaluation may be possible in pediatric patients with eutopic congenital hypothyroidism requiring lower L-thyroxine doses. ( 25346918 )
2014
158
Congenital hypothyroidism and concurrent renal insufficiency in a kitten. ( 25685940 )
2014
159
Congenital hypothyroidism and the importance of universal newborn screening. ( 24323500 )
2014
160
Overall usefulness of newborn screening for congenital hypothyroidism by using free thyroxine measurement. ( 25088493 )
2014
161
Identification of PENDRIN (SLC26A4) Mutations in Patients With Congenital Hypothyroidism and "Apparent" Thyroid Dysgenesis. ( 24248179 )
2014
162
Clinical Practice: Experience with newborn screening for congenital hypothyroidism in the Republic of Macedonia-a multiethnic country. ( 25192932 )
2014
163
Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India. ( 25228601 )
2014
164
Unusual course of congenital hypothyroidism and route of the L-thyroxine treatment in a preterm newborn. ( 25241613 )
2014
165
What has national screening program changed in cases with congenital hypothyroidism? ( 25562017 )
2014
166
Diagnosis, treatment and outcome of congenital hypothyroidism. ( 25231444 )
2014
167
A new mutation in the promoter region of the PAX8 gene causes true congenital hypothyroidism with thyroid hypoplasia in a girl with Down's syndrome. ( 24499175 )
2014
168
Large thyroid cyst in a patient with congenital hypothyroidism. ( 25627053 )
2014
169
Delayed onset congenital hypothyroidism in a patient with DUOX2 mutations and maternal iodine excess. ( 23239635 )
2013
170
Treating congenital hypothyroidism--which levothyroxine? ( 23458784 )
2013
171
Growth and specialized growth charts of children with congenital hypothyroidism detected by neonatal screening in isfahan, iran. ( 23476799 )
2013
172
Congenital hypothyroidism. ( 23398895 )
2013
173
Risk factors for congenital hypothyroidism in Egypt: results of a population case-control study (2003-2010). ( 23793431 )
2013
174
Children with congenital hypothyroidism have similar neuroradiological abnormal findings as healthy ones. ( 24222727 )
2013
175
Optimising outcome in congenital hypothyroidism; current opinions on best practice in initial assessment and subsequent management. ( 23154163 )
2013
176
A novel dual oxidase maturation factor 2 gene mutation for congenital hypothyroidism. ( 23292166 )
2013
177
50 years ago in The Journal of Pediatrics: The development of children with congenital hypothyroidism. A note on early, temporary replacement therapy for 2 goitrous infants. ( 24160658 )
2013
178
A truncating DUOX2 mutation (R434X) causes severe congenital hypothyroidism. ( 24127536 )
2013
179
Neuroplastic effects of music lessons on hippocampal volume in children with congenital hypothyroidism. ( 24064411 )
2013
180
Early adiposity rebound and obesity in children with congenital hypothyroidism. ( 23590955 )
2013
181
THE CLINICAL AND MOLECULAR CHARACTERIZATION OF PATIENTS WITH DYSHORMONOGENIC CONGENITAL HYPOTHYROIDISM REVEALS SPECIFIC DIAGNOSTIC CLUES FOR DUOX2 DEFECTS. ( 24423310 )
2013
182
Screening for congenital hypothyroidism in newborns transferred to neonatal intensive care. ( 23183553 )
2013
183
All-cause and disease-specific mortality and morbidity in patients with congenital hypothyroidism treated since the neonatal period: a national population-based study. ( 23365128 )
2013
184
A new PAX8 mutation causing congenital hypothyroidism in three generations of a family is associated with abnormalities in the urogenital tract. ( 23647375 )
2013
185
A novel mutation in thyrotropin (thyroid-stimulating hormone) gene in congenital hypothyroidism. ( 23412856 )
2013
186
A common thyroid peroxidase gene mutation (G319R) in Turkish patients with congenital hypothyroidism could be due to a founder effect. ( 24158420 )
2013
187
Comparison between liquid and tablet formulations of levothyroxine in the initial treatment of congenital hypothyroidism. ( 23312689 )
2013
188
Changes of red blood cell rheology in newborns with congenital hypothyroidism during treatment. ( 23544882 )
2013
189
Analysis of EphA5 receptor in the developing rat brain: an in vivo study in congenital hypothyroidism model. ( 23636281 )
2013
190
Congenital hypothyroidism - An usual suspect at an unusual age: A case series. ( 24251153 )
2013
191
Aortic Intima-Media Thickness in Newborns with Congenital Hypothyroidism. ( 24051741 )
2013
192
Permanent and transient congenital hypothyroidism in Fayoum, Egypt: a descriptive retrospective study. ( 23840807 )
2013
193
Risk factors of congenital hypothyroidism using propensity score: a matched case-control study. ( 24077472 )
2013
194
Experience in treating congenital hypothyroidism: implications regarding free thyroxine and thyrotropin steady-state concentrations during optimal levothyroxine treatment. ( 23013069 )
2013
195
Novel truncating thyroglobulin gene mutations associated with congenital hypothyroidism. ( 23949896 )
2013
196
Congenital Hypothyroidism Treatment in Infants: A Comparative Study between Liquid and Tablet Formulations of Levothyroxine. ( 24247169 )
2013
197
Congenital hypothyroidism caused by a novel homozygous mutation in the thyroglobulin gene. ( 23455760 )
2013
198
Congenital hypothyroidism presenting with postpartum bradycardia. ( 23458047 )
2013
199
Generic levothyroxine compared with synthroid in young children with congenital hypothyroidism. ( 23293325 )
2013
200
Establishment and development of a national newborn screening programme for congenital hypothyroidism in Turkey. ( 23748057 )
2013
201
Generic and brand-name L-thyroxine are not bioequivalent for children with severe congenital hypothyroidism. ( 23264396 )
2013
202
Cognitive development in congenital hypothyroidism: is overtreatment a greater threat than undertreatment? ( 23979950 )
2013
203
Prevalence and etiology of congenital hypothyroidism detected through an argentine neonatal screening program (1997-2010). ( 24008435 )
2013
204
Imaging criteria for categorizing congenital hypothyroidism into thyroid hypoplasia and dyshormonogenesis subtypes. ( 23525719 )
2013
205
Newborn screening for congenital hypothyroidism. ( 23154158 )
2013
206
Bilateral galactocele in a male infant with Down syndrome and congenital hypothyroidism. ( 24134763 )
2013
207
Prevalence of permanent congenital hypothyroidism in isfahan-iran. ( 24498491 )
2013
208
The G395R Mutation of the Sodium/Iodide Symporter (NIS) Gene in Patients with Dyshormonogenetic Congenital Hypothyroidism. ( 23412840 )
2013
209
The Italian screening program for primary congenital hypothyroidism: actions to improve screening, diagnosis, follow-up, and surveillance. ( 23404215 )
2013
210
Visuospatial, visuoperceptual, and visuoconstructive abilities in congenital hypothyroidism. ( 24124766 )
2013
211
Importance of molecular genetic analysis in the diagnosis and classification of congenital hypothyroidism. ( 24129411 )
2013
212
Congenital hypothyroidism with eutopic thyroid gland: analysis of clinical and biochemical features at diagnosis and after re-evaluation. ( 23426615 )
2013
213
Congenital hypothyroidism after assisted reproductive technology in Japan: comparison between multiples and singletons, 2005-2009. ( 23402602 )
2013
214
Congenital hypothyroidism alters the oxidative status, enzyme activities and morphological parameters in the hippocampus of developing rats. ( 23693027 )
2013
215
Difference in the incidence of congenital hypothyroidism among world countries. ( 24413874 )
2013
216
Transient hypothyroidism at 3-year follow-up among cases of congenital hypothyroidism detected by newborn screening. ( 22878110 )
2013
217
No Crying Episode after DwPT- A Case of Congenital Hypothyroidism. ( 23998117 )
2013
218
Congenital hypothyroidism due to defects of thyroid development and mild increase of TSH at screening: data from the Italian National Registry of infants with congenital hypothyroidism. ( 23443814 )
2013
219
Congenital Hypothyroidism Presenting with Seizures and Pseudo-Hirschsprung's Disease in Newborn. ( 24193956 )
2013
220
Epidemiology and clinical characteristics of congenital hypothyroidism in an Asian population: a nationwide population-based study. ( 23291568 )
2013
221
Congenital hypothyroidism: recommendations of the Thyroid Department of the Brazilian Society of Endocrinology and Metabolism. ( 23681264 )
2013
222
Neurodevelopment evaluation in children with congenital hypothyroidism by Bayley-III. ( 22858380 )
2013
223
Congenital hypothyroidism caused by a novel mutation of the dual oxidase 2 (DUOX2) gene. ( 23457309 )
2013
224
Dyshormonogenetic goiter-like changes in a child with congenital hypothyroidism and a euthyroid adult. ( 22362641 )
2013
225
Craniofacial and dental manifestations of triple X syndrome associated with congenital hypothyroidism: a case report. ( 24117978 )
2013
226
Monitoring and prognostic evaluation of patients with congenital hypothyroidism treated in a pediatric endocrinology unit. ( 24292031 )
2013
227
Factors associated with hearing impairment in patients with congenital hypothyroidism treated since the neonatal period: a national population-based study. ( 23780375 )
2013
228
Neurodevelopmental and body composition outcomes in children with congenital hypothyroidism treated with high-dose initial replacement and close monitoring. ( 23861458 )
2013
229
The association between some endocrine disruptors in human plasma and the occurrence of congenital hypothyroidism. ( 23376177 )
2013
230
Diseases accompanying congenital hypothyroidism. ( 24353135 )
2013
231
Intelligence quotient in children with congenital hypothyroidism: The effect of diagnostic and treatment variables. ( 24174944 )
2013
232
Lissencephaly presenting with congenital hypothyroidism. ( 23751382 )
2013
233
Fasting glucagon-like peptide-1 in patients with overt hyperthyroidism and euthyroid congenital hypothyroidism. ( 23828490 )
2013
234
Newborn screening for congenital hypothyroidism. ( 23791721 )
2013
235
Respiratory insufficiency in a newborn with congenital hypothyroidism due to a new mutation of TTF-1/NKX2.1 gene. ( 23997037 )
2013
236
Prevalence of transient congenital hypothyroidism in central part of Iran. ( 24379847 )
2013
237
A retrospective review of newborn screening for congenital hypothyroidism and newborn thyroid disease at a major medical center. ( 23785061 )
2013
238
A Novel, Homozygous c.1502T>G (p.Val501Gly) Mutation in the Thyroid peroxidase Gene in Malaysian Sisters with Congenital Hypothyroidism and Multinodular Goiter. ( 23737781 )
2013
239
Evaluation of congenital hypothyroidism in fars province, iran. ( 23056868 )
2012
240
Identifying quantitative trait loci affecting resistance to congenital hypothyroidism in 129/SvJcl strain mice. ( 22299049 )
2012
241
Synchronous occurrence of papillary carcinoma in the thyroid gland and thyroglossal duct in an adolescent with congenital hypothyroidism. ( 22394702 )
2012
242
Incidence of congenital hypothyroidism in the city of Uberaba/Minas Gerais and etiological evaluation of the affected subjects. ( 22911283 )
2012
243
Congenital hypothyroidism with goiter in Tenterfield terriers. ( 23113744 )
2012
244
The autonomic condition of children with congenital hypothyroidism as indicated by the analysis of heart rate variability. ( 22112613 )
2012
245
Neonatal screening for congenital hypothyroidism in Japan. ( 23330249 )
2012
246
Congenital hypothyroidism due to maternal radioactive iodine exposure during pregnancy. ( 22672871 )
2012
247
Etiology of increasing incidence of congenital hypothyroidism in New Zealand from 1993-2010. ( 22723332 )
2012
248
Permanent and transient congenital hypothyroidism in preterm infants. ( 22107264 )
2012
249
Higher incidence of thyroid agenesis in Mexican newborns with congenital hypothyroidism associated with birth defects. ( 21816548 )
2012
250
Effect of prolonged discontinuation of L-thyroxine replacement in a child with congenital hypothyroidism. ( 22953072 )
2012
251
Diagnosed congenital hypothyroidism with missing follow-up: is it time for a national registry? ( 23396030 )
2012
252
A case of congenital hypothyroidism in PHACE syndrome. ( 22876567 )
2012
253
Hirschsprungs disease with congenital hypothyroidism. ( 22484747 )
2012
254
Clinical and laboratory features of children and adolescents with congenital hypothyroidism due to dyshormonogenesis in southern Brazil. ( 22666737 )
2012
255
Congenital hypothyroidism. ( 22570946 )
2012
256
Assessment of impact of internal exposure to PBDEs on human thyroid function--comparison between congenital hypothyroidism and normal paired blood. ( 22578177 )
2012
257
Linear growth and neurodevelopmental outcome of children with congenital hypothyroidism detected by neonatal screening: A controlled study. ( 22837917 )
2012
258
Evaluation of cognitive and motor development in toddlers with congenital hypothyroidism diagnosed by neonatal screening. ( 23027136 )
2012
259
Two novel mutations in the thyroglobulin gene as cause of congenital hypothyroidism: identification a cryptic donor splice site in the exon 19. ( 21958696 )
2012
260
Missed congenital hypothyroidism in an identical twin. ( 22970836 )
2012
261
Epidemiology of congenital hypothyroidism: what can be deduced from the Italian registry of infants with congenital hypothyroidism. ( 23025761 )
2012
262
Fecundity in young adults treated early for congenital hypothyroidism is related to the initial severity of the disease: a longitudinal population-based cohort study. ( 22419725 )
2012
263
Elevated serum ferritin and soluble transferrin receptor in infants with congenital hypothyroidism. ( 22768652 )
2012
264
Congenital hypothyroidism caused by excess prenatal maternal iodineA ingestion. ( 22841183 )
2012
265
Long-term consequences of the early treatment of children with congenital hypothyroidism detected by neonatal screening in Nanjing, China: a 12-year follow-up study. ( 21296863 )
2012
266
Congenital hypothyroidism screening program in Turkey: a local evaluation. ( 23692784 )
2012
267
Ultrasonographic description of brain cortex and cingulate sulcus development in Mexican neonates and infants with congenital hypothyroidism. ( 22570956 )
2012
268
Screening of PAX8 mutations in Chinese patients with congenital hypothyroidism. ( 22293317 )
2012
269
Detection and treatment of congenital hypothyroidism. ( 22009163 )
2012
270
Congenital hypothyroidism as the initial presentation that led to the diagnosis of Williams syndrome. ( 22198067 )
2012
271
Thyroid developmental anomalies among first-degree relatives of children with thyroid dysgenesis and congenital hypothyroidism. ( 22876532 )
2012
272
Congenital Hypothyroidism with Gland in situ is More Frequent than Previously Thought. ( 22654855 )
2012
273
Ultrasound for primary imaging of congenital hypothyroidism. ( 22915427 )
2012
274
Prevalence of permanent and transient congenital hypothyroidism in Babol City -Iran. ( 22926374 )
2012
275
In congenital hypothyroidism, an initial L-thyroxine dose of 10-12 I1g/kg/day is sufficient and sometimes excessive based on thyroid tests 1 month later. ( 23426811 )
2012
276
Neonatal screening for congenital hypothyroidism in East Azerbaijan, Iran: the first report. ( 23060475 )
2012
277
Thyroid peroxidase gene mutation in patients with congenital hypothyroidism in isfahan, iran. ( 22919382 )
2012
278
Congenital anomalies in infant with congenital hypothyroidism. ( 23074545 )
2012
279
Different aspects of kidney function in well-controlled congenital hypothyroidism. ( 23261862 )
2012
280
High prevalence of congenital hypothyroidism in Isfahan: Do familial components have a role? ( 23326768 )
2012
281
R450H TSH receptor mutation in congenital hypothyroidism in Taiwanese children. ( 22405933 )
2012
282
The role of maternal thyroid stimulating hormone receptor blocking antibodies in the etiology of congenital hypothyroidism in isfahan, iran. ( 22347610 )
2012
283
Mass screening of newborns for congenital hypothyroidism of central origin by free thyroxine measurement of blood samples on filter paper. ( 22301913 )
2012
284
Hypothyroidism in children beyond 5 y of age: delayed diagnosis of congenital hypothyroidism. ( 22237638 )
2012
285
Visuospatial associative memory and hippocampal functioning in congenital hypothyroidism. ( 22114849 )
2012
286
Health- related quality of life and self-worth in 10-year old children with congenital hypothyroidism diagnosed by neonatal screening. ( 23034129 )
2012
287
Congenital hypothyroidism: Screening dilemma. ( 23565366 )
2012
288
Performance metrics after changes in screening protocol for congenital hypothyroidism. ( 23045555 )
2012
289
Unawareness of the effects of soy intake on the management of congenital hypothyroidism. ( 22908106 )
2012
290
Refractory cardiogenic shock in an infant with congenital hypothyroidism. ( 23188956 )
2012
291
Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2-1. ( 23169673 )
2012
292
Molecular analysis of the PAX8 gene in a sample of Mexican patients with primary congenital hypothyroidism: identification of the recurrent p.Arg31His mutation. ( 21689132 )
2012
293
Congenital hypothyroidism: a review of the risk factors. ( 23292624 )
2012
294
Phenylketonuria, congenital hypothyroidism and haemoglobinopathies: public health issues for a Brazilian newborn screening program. ( 23033178 )
2012
295
Functional characterization of four novel PAX8 mutations causing congenital hypothyroidism: new evidence for haploinsufficiency as a disease mechanism. ( 22898500 )
2012
296
Evaluation of current guthrie TSH cut-off point in Iran congenital hypothyroidism screening program: a cost-effectiveness analysis. ( 22369300 )
2012
297
Congenital hypothyroidism mutations affect common folding and trafficking in the I+/I^-hydrolase fold proteins. ( 23035660 )
2012
298
Congenital hypothyroidism: delayed detection after birth and monitoring treatment in the first year of life. ( 21220141 )
2011
299
Variation by ethnicity in the prevalence of congenital hypothyroidism due to thyroid dysgenesis. ( 21054242 )
2011
300
Thyroglobulin gene mutations in congenital hypothyroidism. ( 21372558 )
2011
301
The role of ultrasonography in primary congenital hypothyroidism. ( 22973380 )
2011
302
Thyroid hypoplasia as a cause of congenital hypothyroidism in monozygotic twins concordant for Rubinstein-Taybi syndrome. ( 21448332 )
2011
303
[Mutation of thyroid peroxidase gene in 35 patients with congenital hypothyroidism]. ( 22093430 )
2011
304
Iodide transport defect: functional characterization of a novel mutation in the Na+/I- symporter 5'-untranslated region in a patient with congenital hypothyroidism. ( 21565787 )
2011
305
The continuing health burden of congenital hypothyroidism in the era of neonatal screening. ( 21602460 )
2011
306
Is the incidence of congenital hypothyroidism really increasing? A 20-year retrospective population-based study in QuAcbec. ( 21632812 )
2011
307
A family with congenital hypothyroidism caused by a combination of loss-of-function mutations in the thyrotropin receptor and adenylate cyclase-stimulating G alpha-protein subunit genes. ( 21186955 )
2011
308
Transient congenital hypothyroidism. ( 21966647 )
2011
309
Natal teeth in an infant with congenital hypothyroidism. ( 22048606 )
2011
310
The TSH threshold in neonatal screening for congenital hypothyroidism: a variable solution. ( 20584847 )
2011
311
Frequency of congenital hypothyroidism in neonates in the Konya region, Turkey. ( 21648280 )
2011
312
Determinants of thyrotropin rise in congenital hypothyroidism. ( 21920541 )
2011
313
Impaired neuromotor outcome in school-age children with congenital hypothyroidism receiving early high-dose substitution treatment. ( 21857388 )
2011
314
The increased incidence of congenital hypothyroidism: fact or fancy? ( 21623857 )
2011
315
Informatics of newborn screening for congenital hypothyroidism in Alberta 2005-08: flow of information from birth to treatment. ( 21485968 )
2011
316
Clinical monitoring guidelines for congenital hypothyroidism: laboratory outcome data in the first year of life. ( 21094953 )
2011
317
Von Willebrand factor, and soluble intercellular and vascular cell adhesion molecules as indices of endothelial activation in patients with congenital hypothyroidism. ( 21734348 )
2011
318
Increasing incidence of congenital hypothyroidism: some answers, more questions. ( 21816799 )
2011
319
Reevaluation of congenital hypothyroidism. ( 21478566 )
2011
320
Congenital hypothyroidism with neurological and respiratory alterations: a case detected using a variable diagnostic threshold for TSH. ( 22155464 )
2011
321
Newborn screening for congenital hypothyroidism in very-low-birth-weight babies: the need for a second test. ( 21331666 )
2011
322
Genetic causes of congenital hypothyroidism due to dyshormonogenesis. ( 21543982 )
2011
323
Congenital hypothyroidism in association with chromosome 3p25.3-pter deletion. ( 22145477 )
2011
324
Congenital hypothyroidism: managing the hinterland between fact and theory. ( 20959358 )
2011
325
Congenital hypothyroidism. ( 22256695 )
2011
326
Hypertrichosis due to Congenital Hypothyroidism. ( 21769236 )
2011
327
Rare presentations of congenital hypothyroidism. ( 22332453 )
2011
328
Congenital hypothyroidism: analysis of discordant US and scintigraphic findings. ( 21339351 )
2011
329
Congenital hypothyroidism of dogs and cats: a review. ( 21541884 )
2011
330
Congenital hypothyroidism with a delayed thyroid-stimulating hormone elevation in very premature infants: incidence and growth and developmental outcomes. ( 21232766 )
2011
331
Does congenital hypothyroidism have different etiologies in iran? ( 23056786 )
2011
332
Prevention of intellectual disability through screening for congenital hypothyroidism: how much and at what level? ( 21242230 )
2011
333
The usefulness of ultrasound in follow-up of a patient with dyshormonogenetic congenital hypothyroidism. ( 21932596 )
2011
334
Increased risk of coeliac disease in patients with congenital hypothyroidism. ( 21757873 )
2011
335
Subtle health impairment and socioeducational attainment in young adult patients with congenital hypothyroidism diagnosed by neonatal screening: a longitudinal population-based cohort study. ( 21389139 )
2011
336
Persistent hyperthyrotropinemia in congenital hypothyroidism: successful combination treatment with levothyroxine and liothyronine. ( 21823534 )
2011
337
Thyroid dysfunctions in children detected in mass screening for congenital hypothyroidism. ( 21648281 )
2011
338
Risk factors for neurodevelopmental deficits in congenital hypothyroidism after early substitution treatment. ( 21467693 )
2011
339
A study of the etiology of congenital hypothyroidism in the Niigata prefecture of Japan in patients born between 1989 and 2005 and evaluated at ages 5-19. ( 21309714 )
2011
340
Psychological and behavioural aspects in children and adolescents with congenital hypothyroidism diagnosed by neonatal screening: comparison between parents' and children's perceptions. ( 21098687 )
2011
341
Transient congenital hypothyroidism due to thyroid-stimulating hormone receptor blocking antibodies: a case series. ( 21606073 )
2011
342
Fatal neonatal respiratory failure in an infant with congenital hypothyroidism due to haploinsufficiency of the NKX2-1 gene: alteration of pulmonary surfactant homeostasis. ( 20584796 )
2011
343
Neonatal plasma TSH--estimated upper reference intervals for diagnosis and follow up of congenital hypothyroidism. ( 21545246 )
2011
344
Molecular screening of the TSH receptor (TSHR) and thyroid peroxidase (TPO) genes in Korean patients with nonsyndromic congenital hypothyroidism. ( 21707688 )
2011
345
Hippocampal size and memory functioning in children and adolescents with congenital hypothyroidism. ( 21697249 )
2011
346
Congenital hypothyroidism with severe hypoganglionosis of the colon in a 10 years old girl, a case report. ( 23409402 )
2011
347
Maternal isodisomy for chromosome 9 causing homozygosity for a novel FOXE1 mutation in syndromic congenital hypothyroidism. ( 20484477 )
2010
348
Clinical, biochemical, and molecular findings in Argentinean patients with goitrous congenital hypothyroidism. ( 20972728 )
2010
349
Osteopetrosis and congenital hypothyroidism complicated by slipped capital femoral epiphysis. ( 20150025 )
2010
350
Congenital hypothyroidism and nephrocalcinosis. ( 20371898 )
2010
351
Neonatal screening for congenital hypothyroidism: a retrospective hospital based study from Bahrain. ( 20432804 )
2010
352
Effect of temperature changes on the occurrence of congenital hypothyroidism. ( 20956721 )
2010
353
Screening chromosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypothyroidism and thyroid dysgenesis. ( 20427504 )
2010
354
Congenital hypothyroidism is not always permanent: caveats to newborn thyroid screen interpretation. ( 21048256 )
2010
355
Diagnostic re-evaluation of children with congenital hypothyroidism. ( 20308767 )
2010
356
Screening: Sensitivity versus specificity: neonatal screening for congenital hypothyroidism. ( 21080544 )
2010
357
Effect of laboratory practices on the incidence rate of congenital hypothyroidism. ( 20435717 )
2010
358
Compound heterozygosity for a novel hemizygous missense mutation and a partial deletion affecting the catalytic core of the H2O2-generating enzyme DUOX2 associated with transient congenital hypothyroidism. ( 20187165 )
2010
359
Congenital hypothyroidism. ( 20537182 )
2010
360
A locus on mouse chromosome 2 is involved in susceptibility to congenital hypothyroidism and contains an essential gene expressed in thyroid. ( 20160132 )
2010
361
Congenital hypothyroidism: etiology. ( 21073124 )
2010
362
Polysomnographic features in infants with early diagnosis of congenital hypothyroidism. ( 19665328 )
2010
363
Trends in incidence rates of congenital hypothyroidism related to select demographic factors: data from the United States, California, Massachusetts, New York, and Texas. ( 20435716 )
2010
364
Etiology of congenital hypothyroidism using thyroglobulin and ultrasound combination. ( 20467163 )
2010
365
Congenital hypothyroidism: an evolving common clinical conundrum. ( 20823472 )
2010
366
Thyroid function abnormalities among first-degree relatives of Iranian congenital hypothyroidism neonates. ( 20003140 )
2010
367
Thyroid profile of term appropriate for gestational age neonates in Nigeria: a forerunner to screening for congenital hypothyroidism. ( 20085966 )
2010
368
Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients. ( 20157192 )
2010
369
A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene. ( 21253317 )
2010
370
Characterization of a novel loss-of-function mutation of PAX8 associated with congenital hypothyroidism. ( 20718765 )
2010
371
Prevalence of congenital hypothyroidism--current trends and future directions: workshop summary. ( 20435715 )
2010
372
Esophageal atresia concomitant with congenital hypothyroidism and phenylketonuria in a newborn. ( 20432825 )
2010
373
Congenital Hypothyroidism Caused by a PAX8 Gene Mutation Manifested as Sodium/Iodide Symporter Gene Defect. ( 21048839 )
2010
374
Episodes of overtreatment during the first six months in children with congenital hypothyroidism and their relationships with sustained attention and inhibitory control at school age. ( 20395659 )
2010
375
Discontinuation of thyroid hormone treatment among children in the United States with congenital hypothyroidism: findings from health insurance claims data. ( 20156344 )
2010
376
Characterization of mutations in the FOXE1 gene in a cohort of unrelated Malaysian patients with congenital hypothyroidism and thyroid dysgenesis. ( 20094846 )
2010
377
Screening for congenital hypothyroidism in extreme premature and/or very low birth weight newborns: the importance of a specific protocol. ( 20432805 )
2010
378
Newborn screening strategies for congenital hypothyroidism: an update. ( 20195902 )
2010
379
Hypertrabecular aspect of left ventricular myocardium: a possible complication of congenital hypothyroidism in a preterm infant. ( 20121390 )
2010
380
High prevalence of associated birth defects in congenital hypothyroidism. ( 20454578 )
2010
381
The R450H mutation and D727E polymorphism of the thyrotropin receptor gene in a Chinese child with congenital hypothyroidism. ( 21714469 )
2010
382
Preliminary report on neonatal screening for congenital hypothyroidism, congenital adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency: a Chandigarh experience. ( 20799077 )
2010
383
Newborn screening for congenital hypothyroidism: improved assay performance has created an evidence gap. ( 20446113 )
2010
384
Congenital hypothyroidism in a kitten resulting in decreased IGF-I concentration and abnormal liver function tests. ( 20223692 )
2010
385
Monoallelic thyroid peroxidase gene mutation in a patient with congenital hypothyroidism with total iodide organification defect. ( 21340161 )
2010
386
Impaired astrocytic extracellular matrix distribution under congenital hypothyroidism affects neuronal development in vitro. ( 20839308 )
2010
387
High frequency of D727E polymorphisms in exon 10 of the TSHR gene in Brazilian patients with congenital hypothyroidism. ( 21714466 )
2010
388
Mutations in the gene encoding paired box domain (PAX8) are not a frequent cause of congenital hypothyroidism (CH) in Iranian patients with thyroid dysgenesis. ( 20857061 )
2010
389
Defects of thyroidal hydrogen peroxide generation in congenital hypothyroidism. ( 20122987 )
2010
390
Future research directions to identify causes of the increasing incidence rate of congenital hypothyroidism in the United States. ( 20435719 )
2010
391
Lingual thyroid as a cause of primary hypothyroidism: congenital hypothyroidism in the neonatal period and beyond. ( 20356923 )
2010
392
The impact of transient hypothyroidism on the increasing rate of congenital hypothyroidism in the United States. ( 20435718 )
2010
393
Congenital hypothyroidism due to unexpected iodine sources. ( 20431276 )
2010
394
Screening for congenital hypothyroidism: the significance of threshold limit in false-negative results. ( 20591982 )
2010
395
Time trend and geographic distribution of treated patients with congenital hypothyroidism relative to the number of available endocrinologists in Japan. ( 20227725 )
2010
396
Effects of long-term L-thyroxine treatment on endothelial function and arterial distensibility in young adults with congenital hypothyroidism. ( 19903797 )
2010
397
Monozygotic twins are generally discordant for congenital hypothyroidism from thyroid dysgenesis. ( 19844119 )
2009
398
Congenital hypothyroidism associated with neonatal tooth, Pierre-Robin syndrome and congenital heart defects. ( 20020575 )
2009
399
Repeatability of heart rate variability in congenital hypothyroidism as analysed by detrended fluctuation analysis. ( 19706959 )
2009
400
Kidney growth in children with congenital hypothyroidism. ( 18815815 )
2009
401
A 7-year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH). ( 19486019 )
2009
402
Increased incidence of extrathyroidal congenital malformations in Japanese patients with congenital hypothyroidism and their relationship with Down syndrome and other factors. ( 19534617 )
2009
403
Communicative and psycholinguistic abilities in children with phenylketonuria and congenital hypothyroidism. ( 21499658 )
2009
404
A novel mutation causing pseudohypoparathyroidism 1A with congenital hypothyroidism and osteoma cutis. ( 21274302 )
2009
405
Quality of life of young adults with congenital hypothyroidism. ( 19371292 )
2009
406
Neonatal screening for congenital hypothyroidism in the Federation of Bosnia and Herzegovina: eight years' experience. ( 18668261 )
2009
407
Beckwith-Wiedemann syndrome associated with congenital hypothyroidism in a preterm neonate: a case report and literature review. ( 19474816 )
2009
408
Patient information page from the hormone foundation. Congenital hypothyroidism. ( 19425218 )
2009
409
Decreased parietal cortex activity during mental rotation in children with congenital hypothyroidism. ( 18698134 )
2009
410
Increased prevalence of renal and urinary tract anomalies in children with congenital hypothyroidism. ( 18823909 )
2009
411
High versus low dose of initial thyroid hormone replacement for congenital hypothyroidism. ( 19160309 )
2009
412
Follow-up study of behavioral development and parenting stress profiles in children with congenital hypothyroidism. ( 19858037 )
2009
413
Thyroid peroxidase gene mutations causing congenital hypothyroidism in three Turkish families. ( 20101889 )
2009
414
Congenital hypothyroidism and late-onset goiter: identification and characterization of a novel mutation in the sodium/iodide symporter of the proband and family members. ( 19916865 )
2009
415
Neonatal sludge: a finding of congenital hypothyroidism. ( 21274296 )
2009
416
The Italian National Register of infants with congenital hypothyroidism: twenty years of surveillance and study of congenital hypothyroidism. ( 19490661 )
2009
417
Audit of initial management of congenital hypothyroidism in the United Kingdom--comparison of UK practice with European and UK guidelines. ( 20101887 )
2009
418
Diagnostic spectrum of congenital hypothyroidism in Turkish children. ( 19674358 )
2009
419
Permanent and transient congenital hypothyroidism in Isfahan-Iran. ( 19349525 )
2009
420
Fetal heart rate tracing patterns associated with congenital hypothyroidism. ( 19467638 )
2009
421
A novel presentation of diffuse lung disease caused by congenital hypothyroidism. ( 19773006 )
2009
422
Morphological abnormalities in children with thyroidal congenital hypothyroidism. ( 19367618 )
2009
423
Pitfalls in screening programs for congenital hypothyroidism in premature newborns. ( 19085681 )
2009
424
Identification and functional studies of two new dual-oxidase 2 (DUOX2) mutations in a child with congenital hypothyroidism and a eutopic normal-size thyroid gland. ( 19789206 )
2009
425
Autosomal recessive congenital ichthyosis and congenital hypothyroidism in a Tunisian patient with a nonsense mutation in TGM1. ( 19556108 )
2009
426
A strategy to avoid missed cases in a Brazilian neonatal TSH screening program for congenital hypothyroidism. ( 19618663 )
2009
427
Congenital hypothyroidism: the clinical profile of affected newborns identified by the Newborn Screening Program of the State of Minas Gerais, Brazil. ( 19198739 )
2009
428
Routine renal ultrasounds in children with congenital hypothyroidism: a premature conclusion? ( 19732600 )
2009
429
The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation. ( 19509106 )
2009
430
Screening newborns for congenital hypothyroidism. ( 19391458 )
2009
431
Unusual thyroid constellation in Down syndrome: congenital hypothyroidism, Graves' disease, and hemiagenesis in the same child. ( 19492583 )
2009
432
Congenital hypothyroidism--a delayed diagnosis in a neonate. A case report. ( 19764677 )
2009
433
Congenital hypothyroidism in Calabria: epidemiological and clinical aspects. ( 20061667 )
2009
434
Congenital hypothyroidism alters formalin-induced pain response in neonatal rats. ( 18992317 )
2009
435
Neonatal screening for congenital hypothyroidism and phenylketonuria in China. ( 19718537 )
2009
436
Congenital hypothyroidism simulating acromegaly - a diagnostic pitfall. ( 19855353 )
2009
437
TSHR mutations as a cause of congenital hypothyroidism in Japan: a population-based genetic epidemiology study. ( 19158199 )
2009
438
Intractable neonatal seizures: an unusual presentation of congenital hypothyroidism. ( 20020585 )
2009
439
Children with congenital hypothyroidism: long-term intellectual outcome after early high-dose treatment. ( 18787501 )
2009
440
Thyroid hypoplasia as a cause of congenital hypothyroidism in Williams syndrome. ( 18824871 )
2008
441
Thyrotropin receptor and thyroid transcription factor-1 genes variant in Chinese children with congenital hypothyroidism. ( 18379122 )
2008
442
Screening for congenital hypothyroidism: US Preventive Services Task Force reaffirmation recommendation. ( 18332410 )
2008
443
Persistently raised thyroid stimulating hormone in adequately treated congenital hypothyroidism on long-term follow-up. ( 18540252 )
2008
444
Congenital hypothyroidism, cerebellar atrophy, and the incomplete phenotypic expression of PHACES syndrome. ( 18250537 )
2008
445
Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations. ( 18631008 )
2008
446
Repeat testing for congenital hypothyroidism in preterm infants is unnecessary with an appropriate thyroid stimulating hormone threshold. ( 18252816 )
2008
447
A novel therapeutic paradigm to treat congenital hypothyroidism. ( 18598275 )
2008
448
Intellectual outcome, motor skills and BMI of children with congenital hypothyroidism: a population-based study. ( 18331367 )
2008
449
Central Congenital Hypothyroidism Detected by Neonatal Screening in Sapporo, Japan (2000-2004): It's Prevalence and Clinical Characteristics. ( 24790365 )
2008
450
Long-term cardiovascular effects of levothyroxine therapy in young adults with congenital hypothyroidism. ( 18445676 )
2008
451
Identification and characterization of four PAX8 rare sequence variants (p.T225M, p.L233L, p.G336S and p.A439A) in patients with congenital hypothyroidism and dysgenetic thyroid glands. ( 17980011 )
2008
452
Should the levothyroxine starting dose be tailored to disease severity in neonates with congenital hypothyroidism? ( 18825139 )
2008
453
Audit of newborn screening programme for congenital hypothyroidism. ( 19385494 )
2008
454
Universal newborn screening for congenital hypothyroidism. ( 18451459 )
2008
455
Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies. ( 18029453 )
2008
456
Reply on: Congenital hypothyroidism: look at the whole patient! Horm Res 2007;68:276-277. ( 18493151 )
2008
457
Indicators of the screening program for congenital hypothyroidism in alexandria. ( 19302782 )
2008
458
Thyroid abnormalities among first-degree relatives of children with congenital hypothyroidism: an ultrasound survey. ( 18547957 )
2008
459
Clinical description of infants with congenital hypothyroidism and iodide organification defects. ( 18772598 )
2008
460
Birth prevalence of congenital hypothyroidism in Mexico. ( 18782254 )
2008
461
Methodological and organizational aspects of newborn screening for congenital hypothyroidism in Macedonia. ( 18709003 )
2008
462
Newborn screening in Pakistan - lessons from a hospital-based congenital hypothyroidism screening programme. ( 19904471 )
2008
463
Newborn screening in China: phenylketonuria, congenital hypothyroidism and expanded screening. ( 19904469 )
2008
464
Increase in congenital hypothyroidism due to inadequate iodine nutrition? ( 18093858 )
2008
465
The implementation of revised guidelines and the performance of a screening programme for congenital hypothyroidism. ( 18416947 )
2008
466
Resetting the detection level of cord blood thyroid stimulating hormone (TSH) for the diagnosis of congenital hypothyroidism. ( 17878179 )
2008
467
Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. ( 18042646 )
2008
468
Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program. ( 18765513 )
2008
469
Abnormal growth of the corticospinal axons into the lumbar spinal cord of the hyt/hyt mouse with congenital hypothyroidism. ( 18543337 )
2008
470
Effect of high versus low initial doses of L-thyroxine for congenital hypothyroidism on thyroid function and somatic growth. ( 18456702 )
2008
471
Transient congenital hypothyroidism in an iodine-replete area is not related to parental consanguinity, mode of delivery, goitrogens, iodine exposure, or thyrotropin receptor autoantibodies. ( 18296902 )
2008
472
Incidence of iodine deficiency in Turkish patients with congenital hypothyroidism. ( 18533935 )
2008
473
Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations. ( 17876604 )
2008
474
Cord blood thyroxine and thyroid stimulating hormone screening for congenital hypothyroidism: how useful are they? ( 18540251 )
2008
475
Delayed closure of ductus arteriosus in term newborns with congenital hypothyroidism: effect of L-thyroxine therapy. ( 17676369 )
2008
476
Quality of life, developmental milestones, and self-esteem of young adults with congenital hypothyroidism diagnosed by neonatal screening. ( 18460566 )
2008
477
Congenital hypothyroidism is associated with intermediate filament misregulation, glutamate transporters down-regulation and MAPK activation in developing rat brain. ( 18845185 )
2008
478
Congenital hypothyroidism. ( 18536892 )
2008
479
Delayed closure of the ductus arteriosus in term newborns with congenital hypothyroidism: effect of L-thyroxine therapy. ( 17876651 )
2008
480
Longitudinal study of thyroid function in children with mild hyperthyrotropinemia at neonatal screening for congenital hypothyroidism. ( 18445672 )
2008
481
Neuro-developmental deficits in early-treated congenital hypothyroidism. ( 19904446 )
2008
482
Detection of circulating autoantibodies against thyroid hormones in an infant with permanent congenital hypothyroidism and her twin with transient congenital hypothyroidism: possible contribution of thyroid hormone autoantibodies to neonatal and infant hypothyroidism. ( 19209623 )
2008
483
Congenital hypothyroidism: a forgotten clinical diagnosis? ( 18780595 )
2008
484
Implication of the endocannabinoid system in the locomotor hyperactivity associated with congenital hypothyroidism. ( 18218697 )
2008
485
Propylthiouracil-induced congenital hypothyroidism upregulates vimentin phosphorylation and depletes antioxidant defenses in immature rat testis. ( 18316471 )
2008
486
Congenital hypothyroidism caused by a novel homozygous mutation in the thyroid peroxidase gene. ( 19189706 )
2008
487
A molecular analysis and long-term follow-up of two siblings with severe congenital hypothyroidism carrying the IVS30+1G>T intronic thyroglobulin mutation. ( 19169491 )
2008
488
Seasonal variation in the incidence of congenital hypothyroidism in Isfahan, Iran. ( 17914523 )
2007
489
TTF-2/FOXE1 gene polymorphisms in Sicilian patients with permanent primary congenital hypothyroidism. ( 17318017 )
2007
490
Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene. ( 17532758 )
2007
491
Parental consanguinity among parents of neonates with congenital hypothyroidism in Isfahan. ( 17687829 )
2007
492
Prevalence of minor musculoskeletal anomalies in children with congenital hypothyroidism. ( 17587855 )
2007
493
Implementation of a congenital hypothyroidism newborn screening procedure with mutation detection on genomic DNA extracted from blood spots: the experience of the Italian northeastern reference center. ( 18294054 )
2007
494
Missense mutations of dual oxidase 2 (DUOX2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with DUOX2 maturation factor. ( 17374849 )
2007
495
Young adults with severe congenital hypothyroidism: cognitive event related potentials (ERPs) and the significance of an early start of thyroxine treatment. ( 17257370 )
2007
496
Update on the management of congenital hypothyroidism. ( 18174723 )
2007
497
Biochemical severity of thyroid ectopia in congenital hypothyroidism demonstrates sexual dimorphism. ( 17218725 )
2007
498
Presumed levothyroxine-induced pseudotumor cerebri in a pediatric patient being treated for congenital hypothyroidism. ( 19668534 )
2007
499
What is your diagnosis? Congenital hypothyroidism. ( 17199487 )
2007
500
Neonatal screening for congenital hypothyroidism in the Netherlands: cognitive and motor outcome at 10 years of age. ( 17164300 )
2007
501
Increased incidence of congenital hypothyroidism due to iodine deficiency. ( 17250510 )
2007
502
Incidence of congenital hypothyroidism and congenital adrenal hyperplasia at Flushing Hospital Medical Center. ( 17616041 )
2007
503
Random variability in congenital hypothyroidism from thyroid dysgenesis over 16 years in QuAcbec. ( 17504897 )
2007
504
A Japanese patient of congenital hypothyroidism with cerebellar atrophy. ( 18000345 )
2007
505
Genetic analysis of the PAX8 gene in children with congenital hypothyroidism and dysgenetic or eutopic thyroid glands: identification of a novel sequence variant. ( 17437516 )
2007
506
Seasonality in the incidence of congenital hypothyroidism in Japan: gender-specific patterns and correlation with temperature. ( 17956160 )
2007
507
Growth of patients with congenital hypothyroidism detected by neonatal screening in Japan. ( 17587265 )
2007
508
Thyroxine replacement in an animal model of congenital hypothyroidism. ( 17445845 )
2007
509
Effects of levothyroxine therapy on left and right ventricular function in neonates with congenital hypothyroidism: a tissue Doppler echocardiography study. ( 17962990 )
2007
510
Increase in congenital hypothyroidism in New York State and in the United States. ( 17512233 )
2007
511
Concentrations of organochlorine pollutants in mothers who gave birth to neonates with congenital hypothyroidism. ( 17307219 )
2007
512
How should we be treating children with congenital hypothyroidism? ( 17642417 )
2007
513
Congenital hypothyroidism, dwarfism, and hearing impairment caused by a missense mutation in the mouse dual oxidase 2 gene, Duox2. ( 17440044 )
2007
514
PHACES syndrome with congenital hypothyroidism. ( 17351309 )
2007
515
Recombinant thyrotropin in the diagnosis of congenital hypothyroidism. ( 17284628 )
2007
516
Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis. ( 17381485 )
2007
517
High risk of congenital hypothyroidism in multiple pregnancies. ( 17488789 )
2007
518
Congenital hypothyroidism: look at the whole patient! Editorial comment on the paper by El Kholy et al. in this issue. ( 17587856 )
2007
519
[Thyrotropin receptor gene inactivating mutation in Chinese children with congenital hypothyroidism]. ( 17953807 )
2007
520
Early assessment of hypothalamic-pituitary-gonadal function in patients with congenital hypothyroidism of central origin. ( 17047014 )
2007
521
Male congenital hypothyroid Pax8-/- mice are infertile despite adequate treatment with thyroid hormone. ( 17210747 )
2007
522
Is the current threshold level for screening for congenital hypothyroidism too high? An audit of the clinical evaluation, confirmatory diagnostic tests and treatment of infants with increased blood spot thyroid-stimulating hormone concentrations identified on newborn blood spot screening in Wales. ( 17846034 )
2007
523
Obesity and attenuated adiposity rebound in children with congenital hypothyroidism. Normalization of BMI values in adolescents. ( 17611907 )
2007
524
Congenital hypothyroid female pax8-deficient mice are infertile despite thyroid hormone replacement therapy. ( 17082261 )
2007
525
Mental development of infants with congenital hypothyroidism: a longitudinal study. ( 17164510 )
2007
526
Thyroid scintigraphy and perchlorate test after recombinant human TSH: a new tool for the differential diagnosis of congenital hypothyroidism during infancy. ( 17318546 )
2007
527
Longitudinal assessment of levo-thyroxine therapy for congenital hypothyroidism: relationship with aetiology, bone maturation and biochemical features. ( 17337903 )
2007
528
Neonatal hypertrichosis in an infant of a diabetic mother with congenital hypothyroidism. ( 16570082 )
2006
529
A novel mutation in the thyrotropin (thyroid-stimulating hormone) receptor gene in a case of congenital hypothyroidism. ( 17199441 )
2006
530
Neonatal screening for congenital hypothyroidism based on thyroxine, thyrotropin, and thyroxine-binding globulin measurement: potentials and pitfalls. ( 16787990 )
2006
531
Screening for Pax8 mutations in patients with congenital hypothyroidism in South-West Germany. ( 16763387 )
2006
532
Functional study of a novel single deletion in the TITF1/NKX2.1 homeobox gene that produces congenital hypothyroidism and benign chorea but not pulmonary distress. ( 16507635 )
2006
533
Intellectual and motor development of young adults with congenital hypothyroidism diagnosed by neonatal screening. ( 16303842 )
2006
534
A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis. ( 16882747 )
2006
535
Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism. ( 16715098 )
2006
536
An occasional side effect in the treatment of congenital hypothyroidism: hair loss. ( 16552543 )
2006
537
[Tc]-99m thyroid scintigraphy in congenital hypothyroidism screening program. ( 16943215 )
2006
538
Thyroid hormone in hypopituitarism, Graves' disease, congenital hypothyroidism, and maternal thyroid disease during pregnancy. ( 16707271 )
2006
539
Update of newborn screening and therapy for congenital hypothyroidism. ( 16740880 )
2006
540
Congenital hypothyroidism and the second newborn metabolic screening in Colorado, USA. ( 16509526 )
2006
541
Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes. ( 16684826 )
2006
542
Congenital hypothyroidism in one of monozygotic twins: comparison of their long-term psychosomatic development. ( 16648804 )
2006
543
Congenital hypothyroidism: from paracelsus to molecular diagnosis. ( 16730255 )
2006
544
Trisomy 21 causes persistent congenital hypothyroidism presumably of thyroidal origin. ( 16889491 )
2006
545
The effect of life-long thyroxine treatment and physical activity on bone mineral density in young adult women with congenital hypothyroidism. ( 17252693 )
2006
546
Goitrous congenital hypothyroidism in a twin pregnancy causing respiratory obstruction at birth: implications for management. ( 17062458 )
2006
547
Combined ultrasound and isotope scanning is more informative in the diagnosis of congenital hypothyroidism than single scanning. ( 16864597 )
2006
548
Patients with congenital hypothyroidism demonstrate different altered expression of plasma fibrinogen and haptoglobin polypeptide chains. ( 16412408 )
2006
549
Newborn screening for congenital hypothyroidism. ( 17220056 )
2006
550
Effects of early high-dose levothyroxine treatment on auditory brain event-related potentials at school entry in children with congenital hypothyroidism. ( 16912511 )
2006
551
Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene. ( 17121535 )
2006
552
Congenital hypothyroidism in Peters plus syndrome. ( 16754209 )
2006
553
Dopamine infusion: a possible cause of undiagnosed congenital hypothyroidism in preterm infants. ( 16575344 )
2006
554
Improvement in screening performance and diagnosis of congenital hypothyroidism in Scotland 1979-2003. ( 16595645 )
2006
555
Congenital hypothyroidism (cretinism) in neuroD2-deficient mice. ( 16705180 )
2006
556
[Congenital hypothyroidism]. ( 17072233 )
2006
557
Athyreosis, dysgenesis, and dyshormonogenesis in congenital hypothyroidism. ( 17551472 )
2006
558
Pseudohypoparathyroidism type 1a with congenital hypothyroidism. ( 16995592 )
2006
559
Word and face recognition in children with congenital hypothyroidism: an event-related potential study. ( 16624781 )
2006
560
Delay in screening premature infants for congenital hypothyroidism. ( 17056851 )
2006
561
A mouse model demonstrates a multigenic origin of congenital hypothyroidism. ( 16150900 )
2005
562
Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism. ( 15745925 )
2005
563
Sexual dimorphism of thyroid function in newborns with congenital hypothyroidism. ( 15728201 )
2005
564
Efficacy of congenital hypothyroidism neonatal screening in preterms less than 32 weeks of gestational age: more evidence. ( 15844471 )
2005
565
Neonatal screening for congenital hypothyroidism in Hessen, Germany: efficiency of the screening program and school achievement of 129 children at an age of 8-12 years. ( 16318620 )
2005
566
Neurodevelopmental outcomes in congenital hypothyroidism: comparison of initial T4 dose and time to reach target T4 and TSH. ( 16356430 )
2005
567
Screening for congenital hypothyroidism: the value of retesting after four weeks in neonates with low and very low birth weight. ( 16417691 )
2005
568
Children with congenital hypothyroidism and their siblings: do they really differ? ( 15629966 )
2005
569
Congenital hypothyroidism with gland in situ: diagnostic re-evaluation. ( 16117192 )
2005
570
Neonatal thyrotropin as measured in a congenital hypothyroidism screening program: influence of the mode of delivery. ( 16144951 )
2005
571
Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1. ( 16189712 )
2005
572
Next generation newborn screening for congenital hypothyroidism? ( 15917488 )
2005
573
Neonatal detection of congenital hypothyroidism of central origin. ( 15784706 )
2005
574
Congenital hypothyroidism alters the phosphorylation of ERK1/2 and p38MAPK in the hippocampus of neonatal rats. ( 15617763 )
2005
575
Influence of timing and dose of thyroid hormone replacement on mental, psychomotor, and behavioral development in children with congenital hypothyroidism. ( 16356429 )
2005
576
Rate of recalls in congenital hypothyroidism based upon a regional survey in Isfahan, Iran, using serum T4 and TSH analyses: comparison of two different recall methods. ( 16269871 )
2005
577
Congenital hypothyroidism in association with Caroli's disease and autosomal recessive polycystic kidney disease: patient report. ( 15813611 )
2005
578
Risk factors for congenital hypothyroidism: results of a population case-control study (1997-2003). ( 16322381 )
2005
579
Congenital hypothyroidism. ( 15665157 )
2005
580
High prevalence of congenital hypothyroidism in the Greek Cypriot population: results of the neonatal screening program 1990-2000. ( 15921174 )
2005
581
Seasonality in the incidence of congenital hypothyroidism in Japan. ( 16014151 )
2005
582
Precocious puberty with congenital hypothyroidism. ( 15990731 )
2005
583
Clinical effectiveness and cost-effectiveness of the use of the thyroxine/thyroxine-binding globulin ratio to detect congenital hypothyroidism of thyroidal and central origin in a neonatal screening program. ( 15995048 )
2005
584
Economic evaluation of neonatal screening for phenylketonuria and congenital hypothyroidism. ( 16398841 )
2005
585
Proportion of various types of thyroid disorders among newborns with congenital hypothyroidism and normally located gland: a regional cohort study. ( 15807875 )
2005
586
Neonatal screening for congenital hypothyroidism in West Black Sea area, Turkey. ( 15857333 )
2005
587
Clinical presentation of primary congenital hypothyroidism: experience before mass screening. ( 16351594 )
2005
588
Treatment and follow-up of children with transient congenital hypothyroidism. ( 16358380 )
2005
589
Congenital hypothyroidism: no adverse effects of high dose thyroxine treatment on adult memory, attention, and behaviour. ( 15665163 )
2005
590
High prevalence of extrathyroid malformations in a cohort of Brazilian patients with permanent primary congenital hypothyroidism. ( 15753677 )
2005
591
Umbilical cord blood TSH levels in term neonates: a screening tool for congenital hypothyroidism. ( 16269841 )
2005
592
Undetectable serum IgA and low IgM concentration in children with congenital hypothyroidism. ( 15925836 )
2005
593
[Screening for congenital hypothyroidism in 106 224 neonates in Hunan Province]. ( 15719039 )
2005
594
Disturbance of the fetal thyroid hormone state has long-term consequences for treatment of thyroidal and central congenital hypothyroidism. ( 15827096 )
2005
595
Genetics of congenital hypothyroidism. ( 15863666 )
2005
596
A newborn infant with infantile spinal muscular atrophy associated with trisomy 21 and congenital hypothyroidism. ( 15844790 )
2005
597
Ultrasonographic assessment of the ectopic thyroid tissue in children with congenital hypothyroidism. ( 14586525 )
2004
598
Congenital hypothyroidism in a cat. ( 15025157 )
2004
599
Congenital hypothyroidism caused by a unique thyroid peroxidase allele containing two mutations, C1708T and C2737T. ( 15055360 )
2004
600
Evaluation of experimental methods to induce congenital hypothyroidism in guinea pigs for use in the study of congenital hypothyroidism in horses. ( 15478773 )
2004
601
A high prevalence of consanguineous and severe congenital hypothyroidism in an Iranian population. ( 15506679 )
2004
602
Psychological adjustment of children with congenital hypothyroidism and phenylketonuria as related to parental psychological adjustment. ( 15252232 )
2004
603
Unfolded protein response is involved in the pathology of human congenital hypothyroid goiter and rat non-goitrous congenital hypothyroidism. ( 15171721 )
2004
604
Quantitative computed tomography measurements of bone mineral density in prepubertal children with congenital hypothyroidism treated with L-thyroxine. ( 15270407 )
2004
605
Twenty years later: a reevaluation of the contribution of plasma thyroglobulin to the diagnosis of thyroid dysgenesis in infants with congenital hypothyroidism. ( 15329322 )
2004
606
Contributions of bone maturation measurements to the differential diagnosis of neonatal transient hypothyroidism versus dyshormonogenetic congenital hypothyroidism. ( 15499948 )
2004
607
Analysis of the PAX8 gene in congenital hypothyroidism caused by different forms of thyroid dysgenesis in a father and daughter. ( 15301052 )
2004
608
Developmental delay and unstable state of the testes in the rdw rat with congenital hypothyroidism. ( 15367200 )
2004
609
Bilateral anotia with congenital hypothyroidism. ( 15107526 )
2004
610
Cognition and behavior at school entry in children with congenital hypothyroidism treated early with high-dose levothyroxine. ( 15192621 )
2004
611
Developmental hormonal profiles in rdw rats with congenital hypothyroidism accompanying increased testicular size and infertility in adulthood. ( 15647620 )
2004
612
Definitive diagnosis in children with congenital hypothyroidism. ( 15127002 )
2004
613
The key role of newborn thyroid scintigraphy with isotopic iodide (123I) in defining and managing congenital hypothyroidism. ( 15574601 )
2004
614
Genetic analysis of TTF-2 gene in children with congenital hypothyroidism and cleft palate, congenital hypothyroidism, or isolated cleft palate. ( 15320969 )
2004
615
Expression of pituitary hormones in the Pax8-/- mouse model of congenital hypothyroidism. ( 14617574 )
2004
616
The use of L-T4 as liquid solution improves the practicability and individualized dosage in newborns and infants with congenital hypothyroidism. ( 15301044 )
2004
617
Gene symbol: TSH B. Disease: congenital hypothyroidism. ( 15300985 )
2004
618
Differential effect of fetal, neonatal and treatment variables on neurodevelopment in infants with congenital hypothyroidism. ( 14646397 )
2004
619
Head circumference and linear growth during the first 3 years in treated congenital hypothyroidism in relation to aetiology and initial biochemical severity. ( 15212659 )
2004
620
Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1. ( 15289765 )
2004
621
Prevalence of congenital hypothyroidism in Isfahan, Iran: results of a survey on 20,000 neonates. ( 15237248 )
2004
622
Primary congenital hypothyroidism: clinical characteristics and etiological study. ( 15279337 )
2004
623
Children with congenital hypothyroidism are at risk of adult obesity due to early adiposity rebound. ( 15473876 )
2004
624
Molecular genetic defects in congenital hypothyroidism. ( 15554885 )
2004
625
Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism. ( 15611820 )
2004
626
Effect of long-term L-thyroxine treatment on bone mineral density in young adults with congenital hypothyroidism. ( 15588234 )
2004
627
Potent thyrotrophin receptor-blocking antibodies: a cause of transient congenital hypothyroidism and delayed thyroid development. ( 15012609 )
2004
628
[Molecular-genetic aspects of congenital hypothyroidism]. ( 15858240 )
2004
629
Predictors of intellectual outcome in a cohort of Brazilian children with congenital hypothyroidism. ( 14725688 )
2004
630
An investigation of impulsivity in children with early-treated congenital hypothyroidism. ( 15456686 )
2004
631
In search of the optimal therapy for congenital hypothyroidism. ( 15192611 )
2004
632
Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid. ( 15356023 )
2004
633
Effect of age at thyroid stimulating hormone normalization on postural control in children with congenital hypothyroidism. ( 14974635 )
2004
634
Soy formula complicates management of congenital hypothyroidism. ( 14709499 )
2004
635
Earlier onset of treatment or increment in LT4 dose in screened congenital hypothyroidism: which as the more important factor for IQ at 7 years? ( 15115051 )
2004
636
Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor. ( 14725684 )
2004
637
Multivariate analysis on factors affecting suppression of thyroid-stimulating hormone in treated congenital hypothyroidism. ( 15499223 )
2004
638
Accuracy of ultrasonography to establish the diagnosis and aetiology of permanent primary congenital hypothyroidism. ( 12919160 )
2003
639
Congenital hypothyroidism and iodine status in Turkey: a comparison between the data obtained from an epidemiological study in school-aged children and neonatal screening for congenital hypothyroidism in Turkey. ( 16444153 )
2003
640
Newborn screening for congenital hypothyroidism in early discharged infants. ( 15906727 )
2003
641
Congenital hypothyroidism due to a new deletion in the sodium/iodide symporter protein. ( 14510914 )
2003
642
Transient congenital hypothyroidism due to maternal autoimmune thyroid disease. ( 17003010 )
2003
643
Primary congenital hypothyroidism, newborn thyroid function, and environmental perchlorate exposure among residents of a Southern California community. ( 14534454 )
2003
644
Sex-specific impact of congenital hypothyroidism due to thyroid dysgenesis on skeletal maturation in term newborns. ( 12727946 )
2003
645
Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: a new autosomal recessive syndrome? ( 12966531 )
2003
646
Congenital hypothyroidism associated with Rubinstein-Taybi syndrome. ( 12705373 )
2003
647
Congenital hypothyroidism: influence of disease severity and L-thyroxine treatment on intellectual, motor, and school-associated outcomes in young adults. ( 14523187 )
2003
648
Thyroid abnormalities by ultrasonography in neonates with congenital hypothyroidism. ( 14657824 )
2003
649
[Screening for congenital hypothyroidism, phenylketonuria, galactosemia and biotinidase deficiency in a sample of mentally retarded patients in the city of Havana]. ( 12766862 )
2003
650
Congenital hypothyroidism and early severe hyperbilirubinemia. ( 12800733 )
2003
651
A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystrophy. ( 12656668 )
2003
652
Werdnig-Hoffmann disease with congenital hypothyroidism. ( 14738578 )
2003
653
Iodine deficiency disorders incidence in neonates based on the experience with mass screening for congenital hypothyroidism in southeast Poland in the years 1985-2000. ( 12762638 )
2003
654
The utility of FT4 serum in newborns at risk for congenital hypothyroidism (CH). ( 15906723 )
2003
655
Development of the thyroid gland: lessons from congenitally hypothyroid mice and men. ( 12786749 )
2003
656
In congenital hypothyroidism bone maturation at birth may be a predictive factor of psychomotor development during the first Year of life irrespective of other variables related to treatment. ( 12824859 )
2003
657
Congenital hypothyroidism in Iran. ( 14510082 )
2003
658
Recombinant human TSH testing is a valuable tool for differential diagnosis of congenital hypothyroidism during L-thyroxine replacement. ( 12864801 )
2003
659
Congenital hypothyroidism clinical aspects and late consequences. ( 16444157 )
2003
660
Identification of novel genes involved in congenital hypothyroidism using serial analysis of gene expression. ( 14671405 )
2003
661
Congenital hypothyroidism: developmental outcome in relation to levothyroxine treatment variables. ( 14651787 )
2003
662
Newborn screening for congenital hypothyroidism: the Texas experience. ( 14650804 )
2003
663
A retrospective hospital-based study on congenital hypothyroidism in the Sultanate of Oman. ( 12929888 )
2003
664
Primary congenital hypothyroidism: defects in iodine pathways. ( 14514339 )
2003
665
Treatment for congenital hypothyroidism: thyroxine alone or thyroxine plus triiodothyronine? ( 12728088 )
2003
666
Undetectable levels of tumor necrosis factor-alpha, nitric oxide and inadequate expression of inducible nitric oxide synthase in congenital hypothyroidism. ( 12799216 )
2003
667
Color Doppler ultrasonography: diagnosis of ectopic thyroid gland in patients with congenital hypothyroidism caused by thyroid dysgenesis. ( 14602741 )
2003
668
Screening for congenital hypothyroidism--a new era in Bangladesh. ( 15906726 )
2003
669
Behavioural disorders in adolescents with early-treated congenital hypothyroidism. ( 14703898 )
2003
670
Newborn screening for congenital hypothyroidism in Khon Kaen University Hospital, the first three years, a preliminary report. ( 14650705 )
2003
671
Final height and pubertal growth in Japanese patients with congenital hypothyroidism detected by neonatal screening. ( 12856981 )
2003
672
Central congenital hypothyroidism due to gestational hyperthyroidism: detection where prevention failed. ( 14671180 )
2003
673
Congenital hypothyroidism: an analysis of persisting deficits and associated factors. ( 12759831 )
2002
674
Low TSH congenital hypothyroidism: identification of a novel mutation of the TSH beta-subunit gene in one sporadic case (C85R) and of mutation Q49stop in two siblings with congenital hypothyroidism. ( 12438673 )
2002
675
Genetics of specific phenotypes of congenital hypothyroidism: a population-based approach. ( 12490071 )
2002
676
Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. ( 12110737 )
2002
677
Linkage analysis identifies the thyroglobulin gene region as a major locus for familial congenital hypothyroidism. ( 11935320 )
2002
678
A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. ( 12165566 )
2002
679
Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism. ( 11916616 )
2002
680
Screening for congenital hypothyroidism in the Islamic Republic of Iran: strategies, obstacles and future perspectives. ( 15603028 )
2002
681
[Familial congenital hypothyroidism due to loss of function mutation of the thyrotropin receptor (resistance to thyrotropin)]. ( 11857915 )
2002
682
Congenital hypothyroidism in a child with unsuspected familial dysalbuminemic hyperthyroxinemia caused by a mutation (R218H) in the human albumin gene. ( 11743520 )
2001
683
Maternal isodisomy for chromosome 2p causing severe congenital hypothyroidism. ( 11238503 )
2001
684
Novel mutations of the thyroid peroxidase gene in patients with permanent congenital hypothyroidism. ( 11415848 )
2001
685
A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child. ( 11502839 )
2001
686
Precocious puberty in a girl with congenital hypothyroidism receiving continuous L-thyroxine-replacement therapy. ( 11208009 )
2001
687
A familial case of congenital hypothyroidism caused by a homozygous mutation of the thyrotropin receptor gene. ( 11716047 )
2001
688
Selenium decreases thyroglobulin concentrations but does not affect the increased thyroxine-to-triiodothyronine ratio in children with congenital hypothyroidism. ( 11238502 )
2001
689
A new C-terminal located mutation (V272ter) in the PIT-1 gene manifesting with severe congenital hypothyroidism. Possible functionality of the PIT-1 C-terminus. ( 11847467 )
2001
690
Scintigraphic evaluation of primary congenital hypothyroidism: results of the Greek screening program. ( 11357505 )
2001
691
Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update). ( 11061528 )
2000
692
Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: evidence for a new inactivating mutation of the TSH receptor gene. ( 10720030 )
2000
693
The hypothalamic-pituitary-thyroid negative feedback control axis in children with treated congenital hypothyroidism. ( 10946871 )
2000
694
Congenital Hypothyroidism ( 25905235 )
2000
695
Vitamin D receptor genotype and bone mineral density in Caucasian children with congenital hypothyroidism. ( 10905383 )
2000
696
Neonatal congenital hypothyroidism screening in Addis Ababa, Ethiopia. ( 12862157 )
2000
697
Recent advances in understanding the molecular basis of primary congenital hypothyroidism. ( 10637573 )
2000
698
Longitudinal assessment of L-T4 therapy for congenital hypothyroidism: differences between athyreosis vs ectopia and delayed vs normal bone age. ( 10689639 )
2000
699
Structural analysis of the thyrotropin receptor in four patients with congenital hypothyroidism due to thyroid hypoplasia. ( 10411113 )
1999
700
Effect of primary congenital hypothyroidism upon expression of genes mediating murine brain glucose uptake. ( 10231871 )
1999
701
Serum lipoproteins and apolipoprotein E in infants with congenital hypothyroidism. ( 10365572 )
1999
702
Congenital hypothyroidism and nonimmune hydrops fetalis: associated? ( 9917489 )
1999
703
Congenital hypothyroidism and nonimmune hydrops fetalis: associated? ( 10610498 )
1999
704
Pertechnetate scintigraphy in primary congenital hypothyroidism. ( 10319753 )
1999
705
Structural defects of a Pax8 mutant that give rise to congenital hypothyroidism. ( 10377248 )
1999
706
Congenital hypothyroidism: etiologies, diagnosis, and management. ( 10447022 )
1999
707
Revised guidelines for neonatal screening programmes for primary congenital hypothyroidism. Working Group on Neonatal Screening of the European Society for Paediatric Endocrinology. ( 10640901 )
1999
708
Thyroxine inversely regulates serum intermediate density lipoprotein levels in children with congenital hypothyroidism. ( 10365575 )
1999
709
Low growth hormone-binding protein in infants with congenital hypothyroidism. ( 9768678 )
1998
710
Etiologic study of primary congenital hypothyroidism. ( 9737121 )
1998
711
Analysis of the promoter of the thyrotropin receptor gene and the entire genomic sequence of thyroid transcription factor-1 in familial congenital hypothyroidism due to thyrotropin unresponsiveness. ( 9588495 )
1998
712
Congenital hypothyroidism due to mutations in the sodium/iodide symporter: identification of a nonsense mutation producing a downstream cryptic 3' splice site. ( 9486973 )
1998
713
PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. ( 9590296 )
1998
714
Genetic basis of congenital hypothyroidism: abnormalities in the TSHbeta gene, the PIT1 gene, and the NIS gene. ( 9806481 )
1998
715
Cleidocranial dysplasia: a rare case associated with congenital hypothyroidism and severe neonatal hyperbilirubinemia. ( 9519691 )
1998
716
Identification of a structural requirement for thyroid Na+/I- symporter (NIS) function from analysis of a mutation that causes human congenital hypothyroidism. ( 9657379 )
1998
717
Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. ( 9185526 )
1997
718
Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism. ( 9329388 )
1997
719
Craniofacial anomalies, severe cerebellar hypoplasia, psychomotor and growth delay in a child with congenital hypothyroidism. ( 9354849 )
1997
720
Mutations in the gene encoding thyroid transcription factor-1 (TTF-1) are not a frequent cause of congenital hypothyroidism (CH) with thyroid dysgenesis. ( 9226207 )
1997
721
Congenital hypothyroidism caused by a mutation in the Na(+)/I(-) symporter. ( 9171822 )
1997
722
Genetic and linkage analysis of familial congenital hypothyroidism: exclusion of linkage to the TSH receptor gene. ( 9048917 )
1997
723
Transient congenital hypothyroidism and hyperthyrotropinemia: normal thyroid function and physical development at the ages of 6-14 years. ( 8636368 )
1996
724
Incidence of transient congenital hypothyroidism due to maternal thyrotropin receptor-blocking antibodies in over one million babies. ( 8772590 )
1996
725
Congenital hypothyroidism caused by a premature termination signal in exon 10 of the human thyroid peroxidase gene. ( 8964831 )
1996
726
Congenital hypothyroid goiter with deficient thyroglobulin. Identification of an endoplasmic reticulum storage disease with induction of molecular chaperones. ( 8981932 )
1996
727
The gene for the thyrotropin receptor (TSHR) as a candidate gene for congenital hypothyroidism with thyroid dysgenesis. ( 8981017 )
1996
728
Outcome in three siblings with antibody-mediated transient congenital hypothyroidism. ( 7636655 )
1995
729
Childhood IQ measurements in infants with transient congenital hypothyroidism. ( 7586623 )
1995
730
Bone mineral metabolism and thyroid replacement therapy in congenital hypothyroid infants and young children. ( 7560809 )
1995
731
Prevalence of permanent primary congenital hypothyroidism in Taiwan. ( 7613262 )
1995
732
The importance of thyroglobulin levels in monitoring the treatment of congenital hypothyroidism. ( 7649523 )
1995
733
RC3/neurogranin structure and expression in the caprine brain in relation to congenital hypothyroidism. ( 7539519 )
1995
734
Congenital hypothyroidism: etiology and pathogenesis. ( 7879996 )
1994
735
[Alpha fetoprotein in congenital hypothyroidism before and during treatment]. ( 7531094 )
1994
736
A 20-basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism. ( 8027236 )
1994
737
Etiological grouping of permanent congenital hypothyroidism with a thyroid gland in situ. ( 8013940 )
1994
738
Evolution of height and bone age in primary congenital hypothyroidism. ( 8365078 )
1993
739
Syndromic association of cleft palate, bilateral choanal atresia, curly hair, and congenital hypothyroidism. ( 8320710 )
1993
740
Cutis marmorata telangiectatica congenita: long-term follow-up, review of the literature, and report of a case in conjunction with congenital hypothyroidism. ( 8493172 )
1993
741
Transient congenital hypothyroidism due to maternal thyrotrophin binding inhibiting immunoglobulin. ( 8104016 )
1993
742
Influence of treatment on the maturation of the somesthetic pathway in infants with primary congenital hypothyroidism during the first year of life. ( 8356023 )
1993
743
Effect of short-term hyperthyroxinemia on vitamin D metabolism in congenital hypothyroidism. ( 8406326 )
1993
744
[National screening for phenylketonuria, congenital hypothyroidism and congenital adrenal hyperplasia]. ( 1595380 )
1992
745
Congenital anomalies concomitant with persistent primary congenital hypothyroidism. ( 1519652 )
1992
746
Congenital hypothyroid dwarfism in a family of giant schnauzers. ( 1748985 )
1991
747
Congenital hypothyroid dwarfism in a family of giant schnauzers. ( 2061865 )
1991
748
Circulating thyroid antibodies in congenital hypothyroidism. ( 1659767 )
1991
749
Radionuclide imaging in primary permanent congenital hypothyroidism. ( 1657485 )
1991
750
Thyroid hormones influences sex steroid binding protein levels in infancy: study in congenital hypothyroidism. ( 2229277 )
1990
751
The value of neonatal serum thyroglobulin determinations in the follow-up of patients with congenital hypothyroidism. ( 2239271 )
1990
752
Calcitonin and bone mass status in congenital hypothyroidism. ( 2108791 )
1990
753
Screening of congenital hypothyroidism, phenylketonuria, galactosemia, homocystinuria, and maple syrup urine disease in moderate to severe mentally retarded Chinese children. ( 2787833 )
1989
754
Congenital hypothyroidism, spiky hair, and cleft palate. ( 2918525 )
1989
755
Maternal-fetal transfer of thyroxine in congenital hypothyroidism due to a total organification defect or thyroid agenesis. ( 2733742 )
1989
756
Association of congenital hypothyroidism with congenital hypertrophic pyloric stenosis. ( 3150224 )
1988
757
Transient congenital hypothyroidism after topical iodine in pregnancy and lactation. ( 3566323 )
1987
758
Congenital hypothyroidism from complete iodide transport defect: long-term evolution with iodide treatment. ( 3451231 )
1987
759
Thyroid ectopia in a congenital hypothyroid infant. ( 3742922 )
1986
760
Pseudohypoparathyroidism type 1a presenting as congenital hypothyroidism. ( 2993571 )
1985
761
Neonatal hypothyroidism screening: status of patients at 6 years of age. New England Congenital Hypothyroidism Collaborative. ( 4067750 )
1985
762
Congenital hypothyroidism caused by defective iodide transport. ( 3998954 )
1985
763
Transient congenital hypothyroidism in an infant with congenital nephrosis of Finnish type. ( 6858680 )
1983
764
Pitfalls in screening for neonatal hypothyroidism. Report of the New England Regional Screening Program and the New England Congenital Hypothyroidism Collaborative. ( 7088626 )
1982
765
Familial thyroxine-binding globulin deficiency detected in a pilot screening program for congenital hypothyroidism. ( 6808051 )
1982
766
Transient congenital hypothyroidism after amniofetography. ( 7449796 )
1980
767
Congenital hypothyroidism and Klinefelter's syndrome. ( 7205914 )
1980
768
Neonatal screening in Italy for congenital hypothyroidism and metabolic disorders: hyperphenylalaninemia, maple syrup urine disease and homocystinuria. ( 7204885 )
1980
769
Congenital hypothyroidism in Klinefelter's syndrome. ( 537016 )
1979
770
Congenital hypothyroid gigantism: a new diencephalic syndrome? ( 589083 )
1977
771
Bromide partition test in the evaluation of the blood-cerebrospinal barrier in children with congenital hypothyroidism and central nervous system disease. ( 1224969 )
1975
772
Familial thyroxine-binding globulin deficiency in a patient with congenital hypothyroidism. ( 805043 )
1975
773
Clinical kernicterus and congenital hypothyroidism. ( 13493800 )
1958

Variations for Congenital Hypothyroidism

ClinVar genetic disease variations for Congenital Hypothyroidism:

6 (showing 1, show less)
id Gene Variation Type Significance SNP ID Assembly Location
1 TPO NM_000547.5(TPO): c.2395G> A (p.Glu799Lys) single nucleotide variant Pathogenic rs121908085 GRCh37 Chromosome 2, 1507728: 1507728

Copy number variations for Congenital Hypothyroidism from CNVD:

7 (showing 1, show less)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 225757 7 50314923 50440292 Copy number Congenital hypothyroidism

Expression for Congenital Hypothyroidism

Search GEO for disease gene expression data for Congenital Hypothyroidism.

Pathways for Congenital Hypothyroidism

GO Terms for Congenital Hypothyroidism

Cellular components related to Congenital Hypothyroidism according to GeneCards Suite gene sharing:

(showing 1, show less)
id Name GO ID Score Top Affiliating Genes
1 transcription factor complex GO:0005667 8.8 NKX2-1 NKX2-5 POU1F1

Biological processes related to Congenital Hypothyroidism according to GeneCards Suite gene sharing:

(showing 19, show less)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.97 GLIS3 NKX2-1 NKX2-5 PAX8 POU1F1
2 transcription from RNA polymerase II promoter GO:0006366 9.88 GLIS3 NKX2-5 PAX8 POU1F1
3 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.88 FOXE1 GLIS3 NKX2-1 NKX2-5 POU1F1
4 regulation of transcription from RNA polymerase II promoter GO:0006357 9.87 FOXE1 GLIS3 NKX2-1 NKX2-5
5 positive regulation of transcription, DNA-templated GO:0045893 9.85 FOXE1 NKX2-1 NKX2-5 PAX8 POU1F1
6 anatomical structure morphogenesis GO:0009653 9.69 FOXE1 PAX8 TSHB
7 cellular oxidant detoxification GO:0098869 9.61 DUOX2 IYD TPO
8 positive regulation of multicellular organism growth GO:0040018 9.56 POU1F1 TSHR
9 pituitary gland development GO:0021983 9.54 NKX2-1 POU1F1
10 hormone-mediated signaling pathway GO:0009755 9.52 TSHB TSHR
11 hydrogen peroxide catabolic process GO:0042744 9.49 DUOX2 TPO
12 hormone biosynthetic process GO:0042446 9.43 DUOX2 TG TPO
13 cellular response to gonadotropin stimulus GO:0071371 9.4 PAX8 SLC5A5
14 iodide transport GO:0015705 9.37 SLC5A5 TG
15 thyroid hormone generation GO:0006590 9.35 DUOX2 FOXE1 IYD SLC5A5 TPO
16 thyroid hormone metabolic process GO:0042403 9.33 DUOX2 IYD TG
17 thyroid-stimulating hormone signaling pathway GO:0038194 9.32 PAX8 TSHR
18 negative regulation of cardiac muscle cell apoptotic process GO:0010667 9.25 NKX2-5
19 thyroid gland development GO:0030878 9.1 DUOX2 FOXE1 NKX2-1 NKX2-5 PAX8 TG

Molecular functions related to Congenital Hypothyroidism according to GeneCards Suite gene sharing:

(showing 6, show less)
id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 9.72 FOXE1 NKX2-1 NKX2-5 PAX8 POU1F1
2 sequence-specific DNA binding GO:0043565 9.55 FOXE1 NKX2-1 NKX2-5 PAX8 POU1F1
3 transcription regulatory region DNA binding GO:0044212 9.54 NKX2-1 NKX2-5 PAX8
4 peroxidase activity GO:0004601 9.26 DUOX2 TPO
5 iodide peroxidase activity GO:0004447 8.96 IYD TPO
6 thyroid-stimulating hormone receptor activity GO:0004996 8.62 PAX8 TSHR

Sources for Congenital Hypothyroidism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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