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