雄激素不敏感综合征患者的临床表现及基因突变分析
Analysis of clinical manifestations and gene mutations of patients with androgen insensitivity syndrome

目的 探究13例雄激素不敏感综合征患者的临床表现及雄激素受体(AR)基因变异情况。方法 收集2012—2014年就诊于上海市儿童医院内分泌科的13例雄激素不敏感综合征患者的临床资料；同时采集外周血，提取DNA，对AR基因进行测序。结果 发现6种AR基因错义突变，分别是c.528C＞A（p.S176R）、c.170T>A（p.L57Q）、c.2567G>A（p.R856H）、c.2107T>C（p.S703P）、c.2740C>G（p.P914A）和c.2351A>G（p.Q784R）；其中c.2107T>C（p.S703P）、c.2740C>G（p.P914A）和c.2351A>G（p.Q784R）为新突变。结论 6种错义突变均可能致病，3种新的突变可能导致完全性雄激素不敏感综合征。
： Objective To investigate the clinical manifestations and gene mutations of androgen receptor (AR) of 13 patients with androgen insensitivity syndrome. Methods Clinical data of 13 patients with androgen insensitivity syndrome who were treated at the Department of Endocrinology in Shanghai Children’s Hospital from 2012 to 2014 were collected. The peripheral blood of patients was collected. DNA was extracted and AR gene was sequenced. Results Six missense mutations of AR gene were found, i.e. c.528C>A (p.S176R), c.170T>A (p.L57Q), c.2567G>A (p. R856H), c.2107T>C (p.S703P), c.2740C>G (p.P914A), and c.2351A>G (p.Q784R). Among them, c.2107T>C (p.S703P), c.2740C>G (p.P914A), and c.2351A>G (p.Q784R) were new mutations. Conclusion Six missense mutations may all cause diseases and 3 new mutations may lead to complete androgen insensitivity syndrome