Article
Genetic Analysis of 25 Patients with 5α-Reductase Deficiency in Chinese Population.
BioMed research international - 1 Jan 2020
Han Bing, Cheng Tong, Zhu Hui, Yu Jie, Zhu Wen-Jiao, Song Huai-Dong, Yao Haijun, Qiao Jie
Abstract excerpt
BACKGROUND: A deficiency in steroid 5α-reductase type 2 is an autosomal recessive disorder. Affected individuals manifested ambiguous genitalia, which is caused by decreased dihydrotestosterone (DHT) synthesis in the fetus. METHODS: We analyzed 25 patients with 5α-reductase deficiency in China. Seventeen of the 25 patients (68%) were initially raised as females. Sixteen patients changed their social gender from...
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