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Molecular characterization of 25 Chinese pedigrees with 21-hydroxylase deficiency.

Genetic testing and molecular biomarkers - 1 Mar 2011

Yu Yongguo, Wang Jian, Huang Xiaodong, Wang Ying, Yang Peirong, Li Juan, Tsuei Sian Hsiang-Te, Shen Yongnian, Fu Qihua

Abstract excerpt

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders mainly caused by a defect in the steroid 21-hydroxylase gene (CYP21A2). In this study, we investigated the molecular defects of 25 Chinese pedigrees with 21-hydroxylase deficiency (21-OHD). Diagnosis of the probands in the families was based on their typical clinical presentations, such as inborn ambiguous genitalia, or early onset...

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PMID: 21198393
DOI: 10.1089/gtmb.2010.0131

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

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