Wen Xu,Zhang Weiping.Research advances in the diagnosis and prognosis of 5α-reductase type 2 deficiency[J].Journal of Clinical Pediatric Surgery,,21():84-88.[doi:10.3760/cma.j.cn.101785-202005008-016]
Research advances in the diagnosis and prognosis of 5α-reductase type 2 deficiency
- Keywords:
- 5α-reductase type 2 deficiency/DI; 5α-reductase type 2 deficiency/SU; SRD5A2 gene; 46; XY gender dysplasia; Prognosis
- Abstract:
- 5α-reductase type 2 deficiency is an autosomal recessive disease caused by mutation of SRD5A2 gene.It is one of the major types of 46, XY disorder of sex development.Deficiency of 5α-reductase type 2 will block the conversion of testosterone into dihydrotestosterone, leading to dysplasia of urogenital sinus.It is difficult to be diagnosed due to the diverse clinical phenotypes from incomplete virilization to complete feminization.Children raised as females may show signs of virilization at puberty which brings them gender anxiety and decreased quality of life.This paper reviews the pathogenesis, clinical features, diagnosis, treatment and prognosis of 5 α-reductase type 2 deficiency.
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Memo
收稿日期:2020-05-12。
基金项目:北京市儿科协同发展子课题(XTYB201823)
通讯作者:张潍平,Email:zhangwpp@163.com