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Article

R450H TSH receptor mutation in congenital hypothyroidism in Taiwanese children.

Clinica chimica acta; international journal of clinical chemistry - 14 Jun 2012

Chang Wei-Chiao, Liao Cheng-Yu, Chen Wei-Chiao, Fan Yung-Ching, Chiu Siou-Jin, Kuo Ho-Chang, Woon Peng-Yeong, Chao Mei-Chyn

Abstract excerpt

BACKGROUND: The most common congenital endocrine disorder, congenital hypothyroidism (CHT), is strongly associated with thyroid hormone deficiency. Previous studies have indicated that mutations of thyroid stimulation hormone receptor (TSHR) are a risk factor for the development of congenital hypothyroidism. One mutation of TSHR, p.R450H, is particularly frequent in Japanese children with CHT. However, the...

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Identifiers

PMID: 22405933
DOI: 10.1016/j.cca.2012.02.027

Genes

TSHR

Variants

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