上海交通大学学报（医学版）

上海交通大学学报（医学版）

• 论著（临床研究） • 上一篇    下一篇

雄激素不敏感综合征患者的临床表现及基因突变分析

刘庆旭，李嫔   

  1. 上海交通大学附属儿童医院 上海市儿童医院内分泌科， 上海 200062
  • 出版日期:2015-07-28 发布日期:2015-08-27
  • 通讯作者: 李嫔, 电子信箱: lipin21@126.com。
  • 作者简介:刘庆旭（1989—）， 男， 硕士生; 电子信箱: 1147845790@qq.com。
  • 基金资助:

    上海市科委基金（12411952408,13495810300）；上海市卫生局基金（2011028）

Analysis of clinical manifestations and gene mutations of patients with androgen insensitivity syndrome

LIU Qing-xu, LI Pin   

  1. Department of Endocrinology， Shanghai Children’s Hospital， Shanghai Jiao Tong University, Shanghai 200062， China
  • Online:2015-07-28 Published:2015-08-27
  • Supported by:

    Foundation of Science and Technology Commission of Shanghai Municipality, 12411952408,13495810300; Foundation of Shanghai Municipal Health Bureau, 2011028

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摘要：

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。

关键词: 雄激素不敏感综合征, 雄激素受体, 突变, 疾病

Abstract:

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.

Key words: androgen insensitivity syndrome, androgen receptor, mutation, disease