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Phenotype and molecular characteristics in 45 Chinese children with 5α-reductase type 2 deficiency from South China.

Clinical endocrinology - 1 Oct 2015

Cheng Jing, Lin Ruizhu, Zhang Wen, Liu Guochang, Sheng Huiying, Li Xiuzhen, Zhou Zhihong, Mao Xiaojian, Liu Li

Abstract excerpt

CONTEXT: Affected by steroid 5α-reductase type 2 deficiency (5α-RD2), 46, XY individuals present divergent phenotypes characterized by undervirilization of male external genitalia. To identify the disorder, mutational analysis of 5α-reductase type 2 gene (SRD5A2) is a reliable approach. The genotype-phenotype relationship has not been elucidated. OBJECTIVE: To improve the diagnosis and expand the knowledge of the...

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PMID: 25899528
DOI: 10.1111/cen.12799

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