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 54
Secondary Hypothyroidism 54 30 6 74

Classifications:



Summaries for Central Congenital Hypothyroidism

NIH Rare Diseases : 54 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 Subunit Beta). The drugs Etoposide and Carboplatin have been mentioned in the context of this disorder. Affiliated tissues include thyroid, pituitary and skin, and related phenotypes are muscular hypotonia and constipation

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:

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

Drugs & Therapeutics for Central Congenital Hypothyroidism

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

(show top 50) (show all 62)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Etoposide Approved Phase 3 33419-42-0 36462
2
Carboplatin Approved Phase 3 41575-94-4 10339178 38904 498142
3
leucovorin Approved Phase 3 58-05-9 143 6006
4
Levoleucovorin Approved, Investigational Phase 3 68538-85-2
5
Thiotepa Approved, Investigational Phase 3 52-24-4 5453
6
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
7
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
8
Cisplatin Approved Phase 3 15663-27-1 2767 441203 84093
9
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
10
Lenograstim Approved, Investigational Phase 3 135968-09-1
11
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
12
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
13 Hormones Phase 3,Phase 2,Not Applicable
14 Trace Elements Phase 3
15 Immunologic Factors Phase 3
16 Antimitotic Agents Phase 3
17 Vitamin B Complex Phase 3
18 Antineoplastic Agents, Alkylating Phase 3
19 Antimetabolites Phase 3
20 Dermatologic Agents Phase 3
21 Calcium, Dietary Phase 3
22 Folate Phase 3
23 Antimetabolites, Antineoplastic Phase 3
24 Antineoplastic Agents, Phytogenic Phase 3
25 Vitamin B9 Phase 3
26 Etoposide phosphate Phase 3
27 Alkylating Agents Phase 3
28 Vitamins Phase 3
29 Folic Acid Antagonists Phase 3
30 Antirheumatic Agents Phase 3
31 Adjuvants, Immunologic Phase 3
32 Nucleic Acid Synthesis Inhibitors Phase 3
33 Antidotes Phase 3
34 Immunosuppressive Agents Phase 3
35 Nutrients Phase 3
36 Micronutrients Phase 3
37 Topoisomerase Inhibitors Phase 3
38 Protective Agents Phase 3
39
Iron Approved, Experimental Phase 2 7439-89-6, 15438-31-0 27284 23925
40
tannic acid Approved Phase 2 1401-55-4
41
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
42
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
43 Iron Chelating Agents Phase 2
44 Chelating Agents Phase 2
45 Thyrotropin-Releasing Hormone Phase 2
46 Hormone Antagonists Phase 2
47 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
48
Testosterone Approved, Experimental, Investigational Not Applicable 58-22-0, 481-30-1 10204 6013
49
Polyestradiol phosphate Approved Not Applicable 28014-46-2
50
Estradiol Approved, Investigational, Vet_approved Not Applicable 50-28-2 5757

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 Combination Chemotherapy Followed By Peripheral Stem Cell Transplant in Treating Young Patients With Newly Diagnosed Supratentorial Primitive Neuroectodermal Tumors or High-Risk Medulloblastoma Completed NCT00336024 Phase 3 etoposide;cyclophosphamide;cisplatin;carboplatin;thiotepa;methotrexate;leucovorin calcium;vincristine sulfate
3 Myelodysplastic Syndromes (MDS) Event Free Survival With Iron Chelation Therapy Study Completed NCT00940602 Phase 2 Deferasirox;Placebo
4 Study of Thyrotropin-Releasing Hormone in Normal Volunteers and in Patients With Thyroid or Pituitary Abnormalities Completed NCT00054756 Phase 2 TRH (Thyrotropin Releasing Hormone)
5 The PIT-TBI Pilot Study Unknown status NCT02480985 Not Applicable
6 Central Hypothyroidism, a Novel Laboratory Measurement Unknown status NCT01280292 Not Applicable Eltroxin
7 Central Hypothyroidism and Cardiovascular Risk Completed NCT01574859
8 Drug Use Investigation of Somatropin for GHD-ADULTS. Completed NCT00601419 Somatropin
9 Metabolomics of Thyroid Hormones Recruiting NCT03823859

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 30 TSHB

Anatomical Context for Central Congenital Hypothyroidism

MalaCards organs/tissues related to Central Congenital Hypothyroidism:

42
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
Transient Secondary Hypothyroidism and Thyroid Hormone Replacement Therapy in Pediatric Postoperative Cardiopulmonary Bypass. ( 29485000 )
2018
4
Bilateral Keratoconus Induced by Secondary Hypothyroidism After Radioactive Iodine Therapy. ( 29738593 )
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
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
9
[Secondary hypothyroidism after cervical irradiation: systematic evaluation of thyroid function in follow-up]. ( 25203955 )
2014
10
Growth hormone deficiency, secondary hypothyroidism, and empty sella following treatment of childhood macroprolactinoma. ( 24251133 )
2013
11
Congenital adenohypophyseal hypoplasia associated with secondary hypothyroidism in a 2-week-old Portuguese water dog. ( 23204587 )
2012
12
Replacement therapy of secondary hypothyroidism in children born with low body weight improves mental development. ( 23020058 )
2012
13
Central Congenital Hypothyroidism Detected by Neonatal Screening in Sapporo, Japan (2000-2004): It's Prevalence and Clinical Characteristics. ( 24790365 )
2008
14
Secondary hypothyroidism in hereditary hemochromatosis: recovery after iron depletion. ( 18205549 )
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
A case of cushing syndrome with both secondary hypothyroidism and hypercalcemia due to postoperative adrenal insufficiency. ( 15004416 )
2004
19
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
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
Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene. ( 11788671 )
2002
23
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
24
[Misinterpretation of elevated serum creatine kinase level in secondary hypothyroidism]. ( 11957791 )
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
Expression of type III hyperlipoproteinaemia in a subject with secondary hypothyroidism bearing the apolipoprotein E2/2 phenotype. ( 1865171 )
1991
29
[A case of pseudo-TSH.PRL-producing pituitary adenoma with secondary hypothyroidism]. ( 1873088 )
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 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
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41 LOVD
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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