Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

hypothyroidism due to TSH receptor mutations (CHNG1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypothyroidism due to TSH receptor mutations

MONDO:0010142

Also known as:CHNG1TSH resistancehypothyroidism, congenital, nongoitrous, type 1

Find Clinical TrialsTrials

Overview

Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.

GeneticsAutosomal recessive · TSHR (chr 14)

Clinical Trials1 registered

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 always present findings: Impaired sensitivity to thyroid stimulating hormone; and very common findings: Elevated circulating thyroid-stimulating hormone concentration and Congenital hypothyroidism. 27 total HPO annotations.

Organ System	Phenotype Count	Example Features
Hormones	6	Thyroid hypoplasia, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration

Genetic Landscape

TSHR function has not been fully characterized.

Hypothyroidism due to TSH receptor mutations is associated with mutations in the TSHR gene on chromosome 14.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

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

Biomarker and diagnostic research for hypothyroidism due to TSH receptor mutations has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 2 very common features, 4 common features.

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 other interventions. Research is primarily sponsored by academic and government institutions.

28 publications have been identified in PubMed for hypothyroidism due to TSH receptor mutations. Research spans Basic Science / Preclinical (50%), Case Report / Case Series (29%), and Diagnostic / Biomarker (11%).

Research Type	Count	% of Total
Laboratory research	14	50%

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 2:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:275200

Orphanet

European rare disease database

Orphanet:90673

GARD

Genetic and Rare Diseases Info Center

GARD:16793

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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?

← Back to All Diseases

Kisho

hypothyroidism due to TSH receptor mutations

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

hypothyroidism due to TSH receptor mutations

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications