U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Hypothyroidism due to TSH receptor mutations

Hypothyroidism due to TSH receptor mutations

Synonyms
HYPOTHYROIDISM DUE TO UNRESPONSIVENESS TO THYROTROPIN; HYPOTHYROIDISM, CONGENITAL, DUE TO TSH RESISTANCE; HYPOTHYROIDISM, NONAUTOIMMUNE; Hypothyroidism, congenital, nongoitrous, 1; THYROID-STIMULATING HORMONE, RESISTANCE TO; TSH RESISTANCE
Modes of inheritance
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)

Summary

Resistance to thyroid-stimulating hormone (TSH; see 188540), a hallmark of congenital nongoitrous hypothyroidism, causes increased levels of plasma TSH and low levels of thyroid hormone. Only a subset of patients develop frank hypothyroidism; the remainder are euthyroid and asymptomatic (so-called compensated hypothyroidism) and are usually detected by neonatal screening programs (Paschke and Ludgate, 1997). Genetic Heterogeneity of Congenital Nongoitrous Hypothyroidism Also see CHNG2 (218700), caused by mutation in the PAX8 gene (167415) on chromosome 2q14; CHNG3 (609893), caused by mutation in the STRTS short tandem repeat (620900) on chromosome 15q26.1; CHNG4 (275100), caused by mutation in the TSHB gene (188540) on chromosome 1p13; CHNG5 (225250), caused by mutation in the NKX2-5 gene (600584) on chromosome 5q35; CHNG6 (614450), caused by mutation in the THRA gene (190120) on chromosome 17q21; CHNG7 (618573), caused by mutation in the TRHR gene (188545) on chromosome 8q24; CHNG8 (301033), caused by mutation in the TBL1X gene (300196) on chromosome Xp22; and CHNG9 (301035), caused by mutation in the IRS4 gene (300904) on chromosome Xq22. [from OMIM]

Available tests

23 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (23 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CHNG1, LGR3, hTSHR-I, TSHR
    Summary: thyroid stimulating hormone receptor

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.