MCID: CNT101
MIFTS: 31

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
Secondary Hypothyroidism 53 29 6 73

Classifications:



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: 226298Disease definitionCentral 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 hypothyroidism, congenital, nongoitrous, 4. An important gene associated with Central Congenital Hypothyroidism is TSHB (Thyroid Stimulating Hormone Beta). The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include thyroid, pituitary and skin, and related phenotypes are depressivity and muscular hypotonia

Related Diseases for Central Congenital Hypothyroidism

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:

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

Drugs & Therapeutics for Central Congenital Hypothyroidism

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

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 tannic acid Approved Phase 2
2
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
3
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
4
Iron Approved Phase 2 7439-89-6 23925
5 Chelating Agents Phase 2
6 Iron Chelating Agents Phase 2
7
Testosterone Approved, Investigational Not Applicable 58-22-0 6013
8
Estradiol Approved, Investigational, Vet_approved Not Applicable 50-28-2 5757
9
Polyestradiol phosphate Approved Not Applicable 28014-46-2
10 Estradiol valerate Approved, Investigational, Vet_approved Not Applicable 979-32-8
11 beta-endorphin Not Applicable
12 Glucagon-Like Peptide 1 Not Applicable
13 Follicle Stimulating Hormone Not Applicable
14 Estradiol 3-benzoate Not Applicable
15 glucagon Not Applicable
16 Melanocyte-Stimulating Hormones Not Applicable
17 Hormones Not Applicable
18 Adrenocorticotropic Hormone Not Applicable
19 Estradiol 17 beta-cypionate Not Applicable

Interventional clinical trials:


# 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 Myelodysplastic Syndromes (MDS) Event Free Survival With Iron Chelation Therapy Study Completed NCT00940602 Phase 2 Deferasirox;Placebo
3 The PIT-TBI Pilot Study Active, not recruiting NCT02480985 Not Applicable

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, Skin, Hypothalamus, Testes, Fetal Thyroid

Publications for Central Congenital Hypothyroidism

Articles related to Central Congenital Hypothyroidism:

(show all 44)
# Title Authors Year
1
Central congenital hypothyroidism caused by maternal thyrotoxicosis. ( 29572363 )
2018
2
Sequential occurrence of primary and secondary hypothyroidism during treatment with nivolumab: pitfalls in immuno-oncological therapy and endocrinological diagnostic procedures. ( 30411844 )
2018
3
Bilateral Keratoconus Induced by Secondary Hypothyroidism After Radioactive Iodine Therapy. ( 29738593 )
2018
4
Transient Secondary Hypothyroidism and Thyroid Hormone Replacement Therapy in Pediatric Postoperative Cardiopulmonary Bypass. ( 29485000 )
2018
5
Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant Detection. ( 28898885 )
2017
6
A Novel Thyrotropin-Releasing Hormone Receptor Missense Mutation (P81R) in Central Congenital Hypothyroidism. ( 26735259 )
2016
7
Recent advances in central congenital hypothyroidism. ( 26416826 )
2015
8
[Secondary hypothyroidism after cervical irradiation: systematic evaluation of thyroid function in follow-up]. ( 25203955 )
2014
9
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
10
Growth hormone deficiency, secondary hypothyroidism, and empty sella following treatment of childhood macroprolactinoma. ( 24251133 )
2013
11
Replacement therapy of secondary hypothyroidism in children born with low body weight improves mental development. ( 23020058 )
2012
12
Congenital adenohypophyseal hypoplasia associated with secondary hypothyroidism in a 2-week-old Portuguese water dog. ( 23204587 )
2012
13
Secondary hypothyroidism in hereditary hemochromatosis: recovery after iron depletion. ( 18205549 )
2008
14
Central Congenital Hypothyroidism Detected by Neonatal Screening in Sapporo, Japan (2000-2004): It's Prevalence and Clinical Characteristics. ( 24790365 )
2008
15
Primary or secondary hypothyroidism? ( 18774982 )
2008
16
Disturbance of the fetal thyroid hormone state has long-term consequences for treatment of thyroidal and central congenital hypothyroidism. ( 15827096 )
2005
17
Secondary hypothyroidism following head trauma in a cat. ( 15771951 )
2005
18
Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect. ( 15292359 )
2004
19
A case of cushing syndrome with both secondary hypothyroidism and hypercalcemia due to postoperative adrenal insufficiency. ( 15004416 )
2004
20
Central congenital hypothyroidism due to gestational hyperthyroidism: detection where prevention failed. ( 14671180 )
2003
21
Congenital secondary hypothyroidism due to a mutation C105Vfs114X thyrotropin-beta mutation: genetic study of five unrelated families from Switzerland and Argentina. ( 12930599 )
2003
22
[Misinterpretation of elevated serum creatine kinase level in secondary hypothyroidism]. ( 11957791 )
2002
23
Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene. ( 11788671 )
2002
24
Thyroid hormones and thyroid-stimulating hormone in Egyptian patients with systemic lupus erythematosus: correlation between secondary hypothyroidism and neuropsychiatric systemic lupus erythematosus syndromes. ( 24384003 )
2002
25
Transient secondary hypothyroidism in children after cardiac surgery. ( 9078538 )
1997
26
Hyperlipidemia in patients with primary and secondary hypothyroidism. ( 8371604 )
1993
27
Undetectable serum levels of thyrotropin (TSH) in an older woman with secondary hypothyroidism: a clinical observation. ( 1727852 )
1992
28
[A case of pseudo-TSH.PRL-producing pituitary adenoma with secondary hypothyroidism]. ( 1873088 )
1991
29
Expression of type III hyperlipoproteinaemia in a subject with secondary hypothyroidism bearing the apolipoprotein E2/2 phenotype. ( 1865171 )
1991
30
Torsade de pointes and Q-T prolongation in secondary hypothyroidism. ( 2899228 )
1988
31
Sensitive immunoradiometric assay for thyrotropin to distinguish primary hyperthyroidism and secondary hypothyroidism from normals. ( 3102683 )
1986
32
[Secondary hypothyroidism with thyrotropic hormone deficiency. Presentation of a case and review of the literature]. ( 4088528 )
1985
33
Congenital secondary hypothyroidism with low serum GH and prolactin levels in a 27-day-old male infant. ( 6285548 )
1982
34
Transient secondary hypothyroidism and thyroxine binding globulin deficiency in leukemic children during polychemotherapy: an effect of L-asparaginase. ( 6167443 )
1981
35
Secondary hypothyroidism in severe non thyroidal illness? ( 7262826 )
1981
36
Thyrotoxicosis in a patient with secondary hypothyroidism. ( 98848 )
1978
37
Primary and secondary hypothyroidism in nasopharyngeal carcinoma. ( 822180 )
1976
38
HYPERTHYROIDISM FOLLOWING SECONDARY HYPOTHYROIDISM. ( 14216484 )
1964
39
A TSH RESERVE TEST FOR DETECTION OF MILD SECONDARY HYPOTHYROIDISM. ( 14228535 )
1964
40
The diagnosis and treatment of primary and secondary hypothyroidism. ( 14007712 )
1961
41
Co-existent secondary hypothyroidism and primary testicular deficiency. ( 14008470 )
1961
42
Solitary (monotropic) thyrotropin deficiency with secondary hypothyroidism; observations on response to thyrotropin, growth hormone and sodium L-thyroxin. ( 13207170 )
1954
43
The use of thyrotrophin in the differential diagnosis of primary and secondary hypothyroidism. ( 13091684 )
1953
44
The response of the thyroid gland to thyrotropic hormone as an aid in the differential diagnosis of primary and secondary hypothyroidism. ( 14794747 )
1950

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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