Wen Xu,Zhang Weiping.Research advances in the diagnosis and prognosis of 5α-reductase type 2 deficiency[J].Journal of Clinical Pediatric Surgery,2022,21(01):84-88.[doi:10.3760/cma.j.cn.101785-202005008-016]
5α-还原酶2型缺乏症的诊治及预后研究进展
- Title:
- Research advances in the diagnosis and prognosis of 5α-reductase type 2 deficiency
- 关键词:
- 5α-还原酶2型缺乏症/诊断; 5α-还原酶2型缺乏症/治疗; SRD5A2基因; 46; XY性别发育异常; 预后
- Keywords:
- 5α-reductase type 2 deficiency/DI; 5α-reductase type 2 deficiency/SU; SRD5A2 gene; 46; XY gender dysplasia; Prognosis
- 摘要:
- 5α-还原酶2型缺乏症是由于5α-还原酶2型基因突变引起的常染色体隐性单基因遗传疾病，是46，XY性别发育异常疾病的主要类型之一。由于5α-还原酶2型缺乏会导致睾酮转化为二氢睾酮的过程受阻，造成尿生殖窦发育不良。患儿临床表型多样，从不完全男性化到完全女性化皆可出现，故诊断较为困难。按女性抚养的患儿会出现青春期男性化表现，引起性别焦虑，影响生活质量。本文对5α-还原酶2型缺乏症的发病机制、临床表现、诊断、治疗及预后进行综述。
- 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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备注/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