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isolated thyrotropin-releasing hormone deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

isolated thyrotropin-releasing hormone deficiency

MONDO:0010140

Also known as:isolated TRF deficiencyisolated TRH deficiencyisolated TSH-releasing factor deficiency

Overview

Hypothyroidism due to dysfunction of the hypothalamus, assumed to result in reduced secretion of thyrotropin- releasing hormone.

GeneticsAutosomal recessive

ResearchLimited published research (6 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: Short stature, Delayed skeletal maturation, Dry skin, and Hoarse voice and 5 more.

Organ System	Phenotype Count	Example Features
Hormones	2	Hypothyroidism, Hypothalamic hypothyroidism
Growth and development

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.

No clinical trials have been registered for isolated thyrotropin-releasing hormone deficiency.

6 publications have been identified in PubMed for isolated thyrotropin-releasing hormone deficiency. Research spans Case Report / Case Series (83%) and Review / Meta-Analysis (17%).

Recent Publications

Fujita Y (2025). [PMID: 40190884](https://pubmed.ncbi.nlm.nih.gov/40190884/). *Cureus*. [Case Report / Case Series]
Sato T (2025). [PMID: 40677481](https://pubmed.ncbi.nlm.nih.gov/40677481/). *Cureus*. [Case Report / Case Series]
German A (2025). [PMID: 39008607](https://pubmed.ncbi.nlm.nih.gov/39008607/). *The Journal of clinical endocrinology and metabolism*. [Case Report / Case Series]
Nakajima H (2025). [PMID: 38987191](https://pubmed.ncbi.nlm.nih.gov/38987191/). *Internal medicine (Tokyo, Japan)*. [Case Report / Case Series]
Urhan E (2024). [PMID: 39037546](https://pubmed.ncbi.nlm.nih.gov/39037546/). *Reviews in endocrine & metabolic disorders*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:275120

Orphanet

European rare disease database

Orphanet:238670

GARD

Genetic and Rare Diseases Info Center

GARD:17179

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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isolated thyrotropin-releasing hormone deficiency

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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