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Abstract

Volume 21, Issue 6 (November 2019) 21, 577–581; 10.4103/aja.aja_113_18

Identification of three novel SRD5A2 mutations in Chinese patients with 5α-reductase 2 deficiency

Tong Cheng1, Hao Wang1, Bing Han1, Hui Zhu1, Hai-Jun Yao2, Shuang-Xia Zhao3, Wen-Jiao Zhu1, Hua-Ling Zhai1, Fu-Guo Chen4, Huai-Dong Song3, Kai-Xiang Cheng4, Yang Liu4, Jie Qiao1

1 Department of Endocrinology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China
2 Department of Urology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China
3 Central Laboratory, Clinical Research Center, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China
4 Department of Plastic Surgery, Research Center of Tissue Engineering, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China

Correspondence: Dr. J Qiao (qiaoj2001@126.com) or Dr. Y Liu (drliuyang9@163.com)

23-Apr-2019

Abstract

In this study, we investigated the genetics, clinical features, and therapeutic approach of 14 patients with 5α-reductase deficiency in China. Genotyping analysis was performed by direct sequencing of PCR products of the steroid 5α-reductase type 2 gene (SRD5A2). The 5α-reductase activities of three novel mutations were investigated by mutagenesis and an in vitro transfection assay. Most patients presented with a microphallus, variable degrees of hypospadias, and cryptorchidism. Eight of 14 patients (57.1%) were initially reared as females and changed their social gender from female to male after puberty. Nine mutations were identified in the 14 patients. p.G203S, p.Q6X, and p.R227Q were the most prevalent mutations. Three mutations (p.K35N, p.H162P, and p.Y136X) have not been reported previously. The nonsense mutation p.Y136X abolished enzymatic activity, whereas p.K35N and p.H162P retained partial enzymatic activity. Topical administration of dihydrotestosterone during infancy or early childhood combined with hypospadia repair surgery had good therapeutic results. In conclusion, we expand the mutation profile of SRD5A2 in the Chinese population. A rational clinical approach to this disorder requires early and accurate diagnosis, especially genetic diagnosis.

Keywords: 5α-reductase type 2 deficiency; dihydrotestosterone; mutation; SRD5A2

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