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selective pituitary resistance to thyroid hormone (PRTH) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

selective pituitary resistance to thyroid hormone

MONDO:0007784

Also known as:PRTHhyperthyroidism, familial, due to inappropriate thyrotropin secretionpituitary resistance to thyroid hormone

Overview

Pituitary resistance to thyroid hormone is a rare, genetic thyroid disease, due to reduced pituitary gland responsiveness to thyroid hormone, characterized by mild to moderate hyperthyroidism in association with elevated circulating thyroid hormone levels, normal or elevated thyroid stimulating hormone, and no abnormalities of the pituitary gland on MRI. Patients present with diffuse large goiter, tachycardia, atrial fibrillation, weight loss and/or heat intolerance/perspiration, but no exophthalmos or anterior tibial mixedema.

GeneticsAutosomal dominant · THRB (chr 3)

ResearchLimited published research (7 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: Hyperthyroidism, Elevated circulating thyroid-stimulating hormone concentration, and Impaired sensitivity to thyroid hormone.

Organ System	Phenotype Count	Example Features
Hormones	3	Hyperthyroidism, Elevated circulating thyroid-stimulating hormone concentration, Impaired sensitivity to thyroid hormone

Genetic Landscape

THRB function has not been fully characterized.

Selective pituitary resistance to thyroid hormone is associated with mutations in the THRB gene on chromosome 3.

Diagnosis

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

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 selective pituitary resistance to thyroid hormone.

7 publications have been identified in PubMed for selective pituitary resistance to thyroid hormone. Research spans Review / Meta-Analysis (29%), Case Report / Case Series (29%), and Other (14%).

Recent Publications

Zhang Y (2026). [PMID: 41176050](https://pubmed.ncbi.nlm.nih.gov/41176050/). *Clinica chimica acta; international journal of clinical chemistry*. [Review / Meta-Analysis]
Tzoraki M (2025). [PMID: 40760324](https://pubmed.ncbi.nlm.nih.gov/40760324/). *Hormones (Athens, Greece)*. [Other]
Ji D (2025). [PMID: 41446595](https://pubmed.ncbi.nlm.nih.gov/41446595/). *International journal of women's health*. [Epidemiology / Natural History]
Sinha RA (2025). [PMID: 39420154](https://pubmed.ncbi.nlm.nih.gov/39420154/). *Nature reviews. Gastroenterology & hepatology*. [Review / Meta-Analysis]
Liao W (2024). [PMID: 39091608](https://pubmed.ncbi.nlm.nih.gov/39091608/). *JCEM case reports*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 9:30 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:145650

Orphanet

European rare disease database

Orphanet:165994

Questions for Your Care Team

→Should I pursue genetic testing for THRB, and what would the results mean for my family?
→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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selective pituitary resistance to thyroid hormone

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

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