An infertile man with gynecomastia caused by a novel mutation of the androgen receptor gene

• 来源期刊: 亚洲男性学杂志（英文版）
• 年，卷（期）: 2015,（3）
• 页码范围: 509-510
• 页数: 2页
• 语种: 中文
• DOI: 10.4103/1008-682X.143740

摘要

Dear Editor, We present here a rare case that an infertile man had gynecomastia for 8 years,which might be caused by a novel mutation (c.728 T ＞ G)found in the transactivation domain (TAD) of androgen receptor (AR)gene. The AR,an intracellular ligand-activated transcription factor,is encoded by a single-copy gene located on Xq1 1-q12.1 This gene comprises eight exons,of which exon 1 codes for the N-terminal TAD,exons 2-3 encode the DNA-binding domain,and exons 4-8 encode a C-terminal hormone-binding domain.2 AR mutations cause androgen insensitivity syndrome (AIS),which is characterized by a complete or partial resistance to androgen.