Ontology highlight
ABSTRACT:
SUBMITTER: Cheng T
PROVIDER: S-EPMC6859664 | biostudies-literature | 2019 Nov-Dec
REPOSITORIES: biostudies-literature
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]