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Article

Thyrotropin receptor gene mutations and TSH resistance: variable expressivity in the heterozygotes.

Clinical endocrinology - 1 Aug 2005

Camilot Marta, Teofoli Francesca, Gandini Alberto, Franceschi Roberto, Rapa Anna, Corrias Andrea, Bona Gianni, Radetti Giorgio, Tatò Luciano

Abstract excerpt

OBJECTIVE: TSH resistance ranges from overt nonautoimmune hypothyroidism to subclinical hypothyroidism, defined as mild hyperthyrotrophinaemia but a euthyroid state clinically. To date, 23 inactivating mutations of the TSH receptor (TSHR) gene have been proven responsible for the clinical condition, but an absence of mutations in the TSHR gene has been reported for several cases of TSH resistance as well. In this...

Topics

Child
Codon
Congenital Hypothyroidism
Female
Gene Expression Regulation
Heterozygote
Humans
Hypothyroidism
Infant, Newborn
Male
Models, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Pedigree

Receptors, Thyrotropin

Thyrotropin

Source

Identifiers

PMID: 16060907
DOI: 10.1111/j.1365-2265.2005.02314.x

Genes

TSHR

Provenance

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

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Thyrotropin receptor gene mutations and TSH resistance: variable expressivity in the heterozygotes.PMID 16060907Read ↗

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