Identification of three novel SRD5A2 mutations in Chinese patients with 5α-reductase 2 deficiency / 亚洲男科学杂志(英文版)

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.

Steroid 5?-reductase and 5?-reductase type 2 deficiency / 基础医学与临床

Two types of steroid 5?-reductase isozymes were found in human and rats.5?-reductase type 2 deficiency in male lead to male pseudohermaphroditism and other related phenotypes.The content of this review includes:① The progress in the fields of 5?-reductase research;②Biochemical characteristics and physiological effects of 5?-reductase.③ Gene structure and mutation in 5?-reductase genes,clinical and chemical features of 5?-reductase type 2 deficiency syndrome.④Inhibitory agents of 5?-reductase and their mechanism and clinical use.The investigation in 5?-reductase help to illuminate physiological effect and sexual differentiation of androgen.The development of new inhibitory agents for 5?-reductase creats new strategy for diseases caused by imbalance of androgen action.Their mechanism and long effects of clinical use need further investigation and observation.