Original article (Clinical research)

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

  • LIU Qing-xu ,
  • LI Pin
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  • Department of Endocrinology, Shanghai Children’s Hospital, Shanghai Jiao Tong University, Shanghai 200062, China

Online published: 2015-08-27

Supported by

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

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.

Cite this article

LIU Qing-xu , LI Pin . Analysis of clinical manifestations and gene mutations of patients with androgen insensitivity syndrome[J]. Journal of Shanghai Jiao Tong University (Medical Science), 2015 , 35(7) : 990 . DOI: 11.3969/j.issn.1674-8115.2015.07.011

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