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


ABSTRACT: In this study, we investigated the genetics, clinical features, and therapeutic approach of 14 patients with 5?-reductase deficiency in China. Genotyping analysis was performed by direct sequencing of PCR products of the steroid 5?-reductase type 2 gene (SRD5A2). The 5?-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.

SUBMITTER: Cheng T 

PROVIDER: S-EPMC6859664 | biostudies-literature | 2019 Nov-Dec

REPOSITORIES: biostudies-literature

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Identification of three novel <i>SRD5A2</i> mutations in Chinese patients with 5α-reductase 2 deficiency.

Cheng Tong T   Wang Hao H   Han Bing B   Zhu Hui H   Yao Hai-Jun HJ   Zhao Shuang-Xia SX   Zhu Wen-Jiao WJ   Zhai Hua-Ling HL   Chen Fu-Guo FG   Song Huai-Dong HD   Cheng Kai-Xiang KX   Liu Yang Y   Qiao Jie J  

Asian journal of andrology 20191101 6


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 pati  ...[more]

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