Article
Phenotypic and molecular characteristics in eleven Chinese patients with 5α-reductase Type 2 deficiency.
Clinical endocrinology - 1 Nov 2014
Zhu Hui, Liu Wei, Han Bing, Fan Mengxia, Zhao Shuangxia, Wang Haining, Lu Yingli, Pan Chunming, Chen Fuguo, Chen Mingdao, Song Huaidong, Cheng Kaixiang, Qiao Jie
Abstract excerpt
CONTEXT: Steroid 5α-reductase type 2 deficiency (5α-RD2) is a male-limited, autosomal recessive inherited disease. Affected 46, XY individuals usually present with ambiguous genitalia at birth. An early and precise diagnosis is of great value to the long-term prognosis of the disease. OBJECTIVE: To describe the clinical features and molecular determinants in 11 Chinese patients with the SRD5A2 gene mutation and...
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