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Article

Clinical and genetic analysis of three Chinese patients with steroid 5α-reductase type 2 deficiency.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2012

Yang Yan, Wang Bao-an, Guo Qing-hua, Dou Jing-tao, Lv Zhao-hui, Ba Jian-ming, Lu Ju-ming, Pan Chang-yu, Mu Yi-ming

Abstract excerpt

Steroid 5α-reductase type 2 deficiency (5α-RD2) is a rare autosomal recessive inherited disorder caused by mutations in the SRD5A2 gene. Its clinical features and pathogenesis in Chinese patients are poorly understood. This study aimed to characterize the clinical features and genetically analyze the SRD5A2 gene in three Chinese 5α-RD2 patients. The patients were characterized by ambiguous genitalia and...

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Identifiers

PMID: 23329752
DOI: 10.1515/jpem-2012-0115

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