An activating mutation of the thyrotropin receptor gene in hereditary non-autoimmune hyperthyroidism.

doi:10.1515/jpem.2002.15.2.211

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Article

An activating mutation of the thyrotropin receptor gene in hereditary non-autoimmune hyperthyroidism.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Feb 2002

Lee Yung-Seng, Poh LarryKokSeng, Loke Kah-Yin

Abstract excerpt

The thyroid stimulating hormone (TSH) receptor gene displays a diverse spectrum of activating and inactivating mutations. We report a germline activating mutation M463V of the TSH receptor gene in two siblings with hereditary non-autoimmune hyperthyroidism. The onset of disease in the affected members of the pedigree occurred during childhood or adolescence. The significance of diagnosing activating TSHR...

Topics

Adult
Anxiety
Child
Child, Preschool
Female
Humans
Hyperthyroidism
Male
Mutation
Pedigree
Polymerase Chain Reaction
Receptors, Thyrotropin
Sequence Analysis, DNA
Tremor
Weight Loss

Source

Open in PubMed

Identifiers

PMID: 11874187
DOI: 10.1515/jpem.2002.15.2.211

Genes

TSHR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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