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Article

[Thyrotropin receptor gene inactivating mutation in Chinese children with congenital hypothyroidism].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Jul 2007

Yuan Zhe-feng, Luo Yan-fei, Wu Yi-dong, Shen Zheng, Zhao Zheng-yan

Abstract excerpt

OBJECTIVE: The inactivating mutation of thyrotropin receptor (TSHR) gene results in partial or complete insensitivity of thyrotropin (TSH) and dysfunction of the TSH-TSHR-cAMP cascade. Therefore, it may cause congenital hypothyroidism (CH). Depending on the degree of impairment of TSHR function, patients can present with subclinical hypothyroidism at one extreme of the spectrum, or severe hypothyroidism at the...

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Source

Identifiers

PMID: 17953807

Genes

TSHR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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