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central congenital hypothyroidism - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

central congenital hypothyroidism

MONDO:0016410

Also known as:TSH deficiencycentral hypothyroidismhypothalamic-pituitary hypothyroidism

Find Clinical TrialsTrials

Overview

Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism 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.

Clinical Trials1 registered

Diagnosis

Biomarker and diagnostic research for central congenital hypothyroidism has been reported in the published literature.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered. Interventions under study include drug therapy. Research is primarily sponsored by academic and government institutions.

153 publications have been identified in PubMed for central congenital hypothyroidism. Research spans Case Report / Case Series (48%), Epidemiology / Natural History (20%), and Review / Meta-Analysis (16%).

Research Type	Count	% of Total
Patient case studies	73	48%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 11:21 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:226298

GARD

Genetic and Rare Diseases Info Center

GARD:12280

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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central congenital hypothyroidism

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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