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

Rare Disease

permanent congenital hypothyroidism

MONDO:0016408

Find Clinical TrialsTrials

Overview

Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH), a thyroid hormone deficiency present from birth.

Clinical Trials1 registered · 1 recruiting

Diagnosis

Biomarker and diagnostic research for permanent 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, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

27 publications have been identified in PubMed for permanent congenital hypothyroidism. Research spans Epidemiology / Natural History (48%), Case Report / Case Series (15%), and Diagnostic / Biomarker (11%).

Research Type	Count	% of Total
Disease patterns and progression	13

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 12:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:226292

GARD

Genetic and Rare Diseases Info Center

GARD:20560

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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permanent congenital hypothyroidism

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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