A novel arg616Cys mutation in the DNA-binding domain of complete androgen insensitivity syndrome in a Chinese family  

作　　者：Zhou Lu Wang Chen-hong 

机构地区：[1]Southern Med Univ, Affiliated Hosp, Shenzhen Maternal & Child Hlth Hosp, Dept Lab Ctr, Shenzhen 518028, Guangdong, Peoples R China [2]Southern Med Univ, Affiliated Hosp, Shenzhen Maternal & Child Hlth Hosp, Dept Obstet & Gynecol, Shenzhen 518028, Guangdong, Peoples R China

出　　处：《Chinese Medical Journal》2013年第21期4192-4193,共2页中华医学杂志（英文版）

摘　　要：Awide spectrum of Androgen insensitivity syndrome （AIS） occur due to mutations in the androgen receptor（AR）. The clinical presentation of AIS ranges from a typically male phenotype with decreased body hair and/ or oligospermia to a typically female phenotype with primary amenorrhea and without pubic and axillary hair;Awide spectrum of Androgen insensitivity syndrome （AIS） occur due to mutations in the androgen receptor（AR）. The clinical presentation of AIS ranges from a typically male phenotype with decreased body hair and/ or oligospermia to a typically female phenotype with primary amenorrhea and without pubic and axillary hair;

关 键 词：androgen insensitivity syndrome androgen receptor DNA-binding domain single aminoacid substitution 

分 类 号：R588[医药卫生—内分泌]