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hypothyroidism, congenital, nongoitrous, 7 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypothyroidism, congenital, nongoitrous, 7

MONDO:0032819

Also known as:TRH resistance syndromecentral hypothyroidism due to TRH receptor deficiencyresistance to thyrotropin-releasing hormone syndrome

Overview

GeneticsAutosomal recessive · TRHR (chr 8)

ResearchLimited published research (9 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include common findings: Lethargy, Delayed skeletal maturation, Decreased circulating T4 concentration, and Fatigue and others. 21 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Fatigue, Nervous system problems (abnormality of the nervous system), Depression

Genetic Landscape

TRHR function has not been fully characterized.

Hypothyroidism, congenital, nongoitrous, 7 is associated with mutations in the TRHR gene on chromosome 8.

Diagnosis

Genetic testing for TRHR is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hypothyroidism, congenital, nongoitrous, 7 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 19 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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.

No clinical trials have been registered for hypothyroidism, congenital, nongoitrous, 7.

9 publications have been identified in PubMed for hypothyroidism, congenital, nongoitrous, 7. Research spans Case Report / Case Series (56%), Diagnostic / Biomarker (11%), and Review / Meta-Analysis (11%).

Recent Publications

Valientes SDA (2026). [PMID: 41751561](https://pubmed.ncbi.nlm.nih.gov/41751561/). *Genes (Basel)*. [Case Report / Case Series]
Saheki T (2026). [PMID: 42270397](https://pubmed.ncbi.nlm.nih.gov/42270397/). *Intern Med*. [Case Report / Case Series]
Đukić M (2026). [PMID: 42045985](https://pubmed.ncbi.nlm.nih.gov/42045985/). *Cardiovasc Diabetol Endocrinol Rep*. [Diagnostic / Biomarker]
Derkach KV (2025). [PMID: 39859419](https://pubmed.ncbi.nlm.nih.gov/39859419/). *Int J Mol Sci*. [Basic Science / Preclinical]
Köprülü Ö (2025). [PMID: 41048878](https://pubmed.ncbi.nlm.nih.gov/41048878/). *Mol Syndromol*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 1:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618573

Orphanet

European rare disease database

Orphanet:99832

GARD

Genetic and Rare Diseases Info Center

GARD:16914

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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hypothyroidism, congenital, nongoitrous, 7

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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