MCID: CNT101
MIFTS: 33

Central Congenital Hypothyroidism

Categories: Endocrine diseases, Immune diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Central Congenital Hypothyroidism

MalaCards integrated aliases for Central Congenital Hypothyroidism:

Name: Central Congenital Hypothyroidism 53 59
Secondary Hypothyroidism 53 59 29 6 72

Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

ICD10 via Orphanet 34 E03.1
UMLS via Orphanet 73 C3665349
Orphanet 59 ORPHA226298
UMLS 72 C3665349

Summaries for Central Congenital Hypothyroidism

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 226298DefinitionCentral or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system.EpidemiologyPrevalence is unknown.Clinical descriptionThe clinical manifestations are often subtle, probably as a result of trans-placental passage of some maternal thyroid hormone or due to the fact that many infants have some thyroid production of their own. More specific symptoms and signs often do not develop until several months of age. Common clinical features and signs include decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxedematous facies, large fontanels (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. Goiter is always absent. Slow linear growth and developmental delay are usually apparent by 4-6 months of age. Without treatment central hypothyroidism results in intellectual deficit and short stature.EtiologyCentral hypothyroidism usually results from defects of TSH production and is often part of a disorder causing congenital hypopituitarism (see this term), in which case the clinical signs may also include septo-optic dysplasia or cleft lip and/or palate as well as other signs of hypopituitarism, or part of a larger genetic syndrome such as pituitary stalk interruption syndrome (see this term). Mutations in genes regulating pituitary gland development including HESX1, LHX3, LHX4, POU1F1 and PROP1 (3p21.2-p21.1, 9q34.3, 1q25, 3p11 and 5q) may also cause central hypothyroidism. Central hypothyroidism may also result from isolated TSH deficiency (see this term), which is transmitted in an autosomal recessive manner and is caused by mutations in the TSHB subunit gene (1p13), or from TRH resistance (see this term) caused by mutations in the TRH receptor gene (TRHR; 8q23).Visit the Orphanet disease page for more resources.

MalaCards based summary : Central Congenital Hypothyroidism, also known as secondary hypothyroidism, is related to hypothyroidism, central, and testicular enlargement and congenital hypothyroidism. An important gene associated with Central Congenital Hypothyroidism is TSHB (Thyroid Stimulating Hormone Subunit Beta). The drugs Dopamine and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include thyroid, pituitary and brain, and related phenotypes are muscular hypotonia and constipation

Related Diseases for Central Congenital Hypothyroidism

Diseases in the Hypothyroidism family:

Congenital Hypothyroidism Central Congenital Hypothyroidism
Hypothyroidism Due to Iodide Transport Defect Rare Adult Hypothyroidism
Transient Congenital Hypothyroidism Rare Hypothyroidism
Primary Congenital Hypothyroidism Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function
Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs Transient Congenital Hypothyroidism Due to Maternal Factor
Transient Congenital Hypothyroidism Due to Neonatal Factor Congenital Hypothyroidism Due to Transplacental Passage of Tsh-Binding Inhibitory Antibodies
Congenital Hypothyroidism Due to Developmental Anomaly

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

(show all 41)
# Related Disease Score Top Affiliating Genes
1 hypothyroidism, central, and testicular enlargement 11.7
2 congenital hypothyroidism 10.3
3 hypothyroidism 10.3
4 graves' disease 10.2
5 hypothyroidism, congenital, nongoitrous, 4 10.0
6 goiter 9.8
7 adenoma 9.8
8 graves disease 1 9.8
9 alacrima, achalasia, and mental retardation syndrome 9.8
10 helix syndrome 9.8
11 neonatal jaundice 9.8
12 pituitary gland disease 9.8
13 hyperthyroidism 9.8
14 hypopituitarism 9.8
15 hypoglycemia 9.8
16 primary congenital hypothyroidism 9.8
17 non-acquired combined pituitary hormone deficiency 9.8
18 systemic lupus erythematosus 9.7
19 hemochromatosis, type 1 9.7
20 myxedema 9.7
21 ocular motor apraxia 9.7
22 pituitary hormone deficiency, combined, 2 9.7
23 pituitary adenoma, prolactin-secreting 9.7
24 astigmatism 9.7
25 nasopharyngeal carcinoma 9.7
26 adrenal cortical adenoma 9.7
27 umbilical hernia 9.7
28 keratoconus 9.7
29 conn's syndrome 9.7
30 hypogonadism 9.7
31 constipation 9.7
32 empty sella syndrome 9.7
33 pituitary adenoma 9.7
34 fibromyalgia 9.7
35 hypogonadotropism 9.7
36 lupus erythematosus 9.7
37 diabetes insipidus 9.7
38 dwarfism 9.7
39 familial glucocorticoid deficiency 9.7
40 growth hormone deficiency 9.7
41 pituitary tumors 9.7

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



Diseases related to Central Congenital Hypothyroidism

Symptoms & Phenotypes for Central Congenital Hypothyroidism

Human phenotypes related to Central Congenital Hypothyroidism:

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
2 constipation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002019
3 sleep disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0002360
4 macroglossia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000158
5 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
6 umbilical hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001537
7 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
8 hoarse cry 59 32 hallmark (90%) Very frequent (99-80%) HP:0001615
9 feeding difficulties 59 32 hallmark (90%) Very frequent (99-80%) HP:0011968
10 dry skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000958
11 jaundice 59 32 hallmark (90%) Very frequent (99-80%) HP:0000952
12 large fontanelles 59 32 hallmark (90%) Very frequent (99-80%) HP:0000239
13 abdominal distention 59 32 hallmark (90%) Very frequent (99-80%) HP:0003270
14 abnormal fingernail morphology 32 hallmark (90%) HP:0001231
15 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
16 delayed speech and language development 59 32 frequent (33%) Frequent (79-30%) HP:0000750
17 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
18 abnormality of the hypothalamus-pituitary axis 59 32 frequent (33%) Frequent (79-30%) HP:0000864
19 septo-optic dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0100842
20 central hypothyroidism 59 32 frequent (33%) Frequent (79-30%) HP:0011787
21 abnormal eyebrow morphology 32 frequent (33%) HP:0000534
22 hypothyroidism 59 Very frequent (99-80%)
23 abnormality of the fingernails 59 Very frequent (99-80%)
24 abnormality of the eyebrow 59 Frequent (79-30%)
25 abnormality of the endocrine system 59 Frequent (79-30%)
26 abnormality of the face 59 Very frequent (99-80%)
27 oral cleft 59 Frequent (79-30%)

Drugs & Therapeutics for Central Congenital Hypothyroidism

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

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
2 Neurotransmitter Agents Phase 3
3 Cardiotonic Agents Phase 3
4 Sympathomimetics Phase 3
5 Dopamine Agents Phase 3
6 Peripheral Nervous System Agents Phase 3
7 Protective Agents Phase 3
8 Autonomic Agents Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomised, Controlled, Crossover Study: Treatment With Thyroxin Compared to Thyroxin + Triiodothyronin in Patients With Secondary Hypothyroidism Completed NCT00360074 Phase 4 Thyroxin, Triiodothyronine
2 Management of Hypotension In Preterm Infants: The HIP Trial Protocol for a Randomized Controlled Trial of Hypotension Management in the Extremely Low Gestational Age Newborn Unknown status NCT01482559 Phase 3 Dopamine hydrochloride;Dextrose 5%

Search NIH Clinical Center for Central Congenital Hypothyroidism

Genetic Tests for Central Congenital Hypothyroidism

Genetic tests related to Central Congenital Hypothyroidism:

# Genetic test Affiliating Genes
1 Secondary Hypothyroidism 29 TSHB

Anatomical Context for Central Congenital Hypothyroidism

MalaCards organs/tissues related to Central Congenital Hypothyroidism:

41
Thyroid, Pituitary, Brain, Testes, Hypothalamus, Skin, Heart

Publications for Central Congenital Hypothyroidism

Articles related to Central Congenital Hypothyroidism:

(show top 50) (show all 304)
# Title Authors PMID Year
1
A case of Woodhouse-Sakati syndrome with pituitary iron deposition, cardiac and intestinal anomalies, with a novel mutation in DCAF17. 38
31152917 2019
2
Severe hypoglycemia and hyponatremia caused by hypopituitarism in a female patient with type 1 diabetes: A case report. 38
31305453 2019
3
Hypopituitarism other than sellar and parasellar tumors or traumatic brain injury assessed in a tertiary hospital. 38
31372159 2019
4
In primary care, is measuring free-thyroxine plus thyroid-stimulating hormone to detect hypopituitarism cost-effective? A cost utility analysis using Markov chain models. 38
31362968 2019
5
[Manifestation of Graves' disease, resulting from radiosurgical treatment of acromegaly, in a patient with panhypopituitarism]. 38
31271712 2019
6
A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING. 38
31166470 2019
7
Incidence of thyroid disease in patients with forefoot deformity. 38
31186135 2019
8
The Cutoff of Ferritin for Evaluation of Hypothyroidism in Patients With Thalassemia. 38
31008807 2019
9
Thyroid function in Klinefelter syndrome: a multicentre study from KING group. 38
30912057 2019
10
Delayed hypopituitarism following Russell's viper envenomation: a case series and literature review. 38
30317419 2019
11
Extreme Short Stature and Severe Neurological Impairment in a 17-Year-Old Male With Untreated Combined Pituitary Hormone Deficiency Due to POU1F1 Mutation. 38
31316460 2019
12
Osteogenesis Imperfecta Due to Combined Heterozygous Mutations in Both COL1A1 and COL1A2, Coexisting With Pituitary Stalk Interruption Syndrome. 38
30984112 2019
13
Thyroid Disorders in Homozygous β-Thalassemia: Current Knowledge, Emerging Issues and Open Problems. 38
31205633 2019
14
Sequential occurrence of primary and secondary hypothyroidism during treatment with nivolumab: pitfalls in immuno-oncological therapy and endocrinological diagnostic procedures. 38
30411844 2018
15
A novel IGSF1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF1 deficiency syndrome. 38
30086211 2018
16
DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives 38
30324792 2018
17
Xanthomatous hypophysitis causing hypogonadotropic hypogonadism resulting in delayed presentation of slipped capital femoral epiphysis. 38
30450996 2018
18
Dandy-Walker variant with precocious puberty: a rare association. 38
30567100 2018
19
Extrapontine Myelinolysis and Reversible Parkinsonism After Hyponatremia Correction in a Case of Pituitary Adenoma: Hypopituitarism as a Predisposition for Osmotic Demyelination. 38
30055367 2018
20
An unsuspected complication with immune checkpoint blockade: a case report. 38
30176934 2018
21
Hypothyroidism among patients with glioblastoma multiforme. 38
30886683 2018
22
[Hypothyroidism-when and how to treat?] 38
29872890 2018
23
Bilateral Keratoconus Induced by Secondary Hypothyroidism After Radioactive Iodine Therapy. 38
29738593 2018
24
[Hypothyroidism in adults in a basic health area]. 38
28863875 2018
25
THE CORRELATION BETWEEN INFLAMMATORY AND METABOLIC PARAMETERS WITH THYROID FUNCTION IN PATIENTS WITH HASHIMOTO'S THYROIDITIS: THE POTENTIAL ROLE OF INTERLEUKIN 23 (IL-23) AND VASCULAR ENDOTHELIAL GROWTH FACTOR (VEGF) - 1. 38
31149253 2018
26
Central congenital hypothyroidism caused by maternal thyrotoxicosis. 38
29572363 2018
27
Estimation of vitamin D status in patients with secondary and primary hypothyroidism of different etiology. 38
29504734 2018
28
Transient Secondary Hypothyroidism and Thyroid Hormone Replacement Therapy in Pediatric Postoperative Cardiopulmonary Bypass. 38
29485000 2018
29
Lymphocytic Hypophysitis Successfully Treated with Stereotactic Radiosurgery: Case Report and Review of the Literature. 38
28743133 2018
30
Hyperprolactinemia in Children with Subclinical Hypothyroidism. 38
28529200 2017
31
Central Hypothyroidism Due to a TRHR Mutation Causing Impaired Ligand Affinity and Transactivation of Gq. 38
28419241 2017
32
[Long QT syndrome and polymorphic ventricular tachycardia due to hypopituitarism. Report of one case]. 38
29182204 2017
33
Getting to the heart of hypopituitarism. 38
28365624 2017
34
Molecular spectrum of TSHβ subunit gene defects in central hypothyroidism in the UK and Ireland. 38
27362444 2017
35
Myxedema Coma Secondary to Central Hypothyroidism: A Rare but Real Cause of Altered Mental Status in Pediatrics. 38
27631398 2017
36
Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant Detection. 38
28898885 2017
37
Congenital hypothyroidism: insights into pathogenesis and treatment. 38
29026407 2017
38
Prevalence and predictors of hyperprolactinemia in subclinical hypothyroidism. 38
27473607 2016
39
Relationship of each anterior pituitary hormone deficiency to the size of non-functioning pituitary adenoma in the hospitalized patients. 38
27534814 2016
40
SPONTANEOUS CONCEPTION AND TERM DELIVERY IN A WOMAN WITH UNCONTROLLED ACROMEGALY AND HYPOGONADOTROPIC HYPOGONADISM. 38
31149136 2016
41
Minireview: Insights Into the Structural and Molecular Consequences of the TSH-β Mutation C105Vfs114X. 38
27387040 2016
42
Systemic sarcoidosis with hypercalcaemia, hypothalamic-pituitary dysfunction and thyroid involvement. 38
27495178 2016
43
Hypopituitarism Presenting as Adrenal Insufficiency and Hypothyroidism in a Patient with Wilson's Disease: a Case Report. 38
27478349 2016
44
Hypopituitarism and goitre as endocrine manifestation of Langerhans cell histiocytosis (LCH). Case Report. 38
27618599 2016
45
A Novel Thyrotropin-Releasing Hormone Receptor Missense Mutation (P81R) in Central Congenital Hypothyroidism. 38
26735259 2016
46
Congenital hypothyroidism - Polish recommendations for therapy, treatment monitoring, and screening tests in special categories of neonates with increased risk of hypothyroidism. 38
27828692 2016
47
Recent advances in central congenital hypothyroidism. 38
26416826 2015
48
Should Free Thyroxine Go Back into the Routine Thyroid Profile? 38
26600054 2015
49
Systemic high-dose corticosteroid treatment does not improve the outcome of ipilimumab-related hypophysitis: a retrospective cohort study. 38
25538262 2015
50
Endocrine alterations in HIV-infected patients. 38
25593842 2015

Variations for Central Congenital Hypothyroidism

Expression for Central Congenital Hypothyroidism

Search GEO for disease gene expression data for Central Congenital Hypothyroidism.

Pathways for Central Congenital Hypothyroidism

GO Terms for Central Congenital Hypothyroidism

Sources for Central Congenital Hypothyroidism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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