Hashmi Asra, Hanif Farha, Hanif Shumaila Muhammad, Abdullah Farhan Essa, Shamim Muhammad Shahid
Dow University of Health Sciences, Karachi.
J Coll Physicians Surg Pak. 2008 Jul;18(7):442-4.
The incidence of Complete Androgen Insensitivity Syndrome (CAIS) is about 1 in 20,000. People with CAIS are normal appearing females, despite the presence of testes and a 46, XY chromosome constitution. We came across a case in which a 17 years old girl presented with the complaint of inguinal hernia and amenorrhea. Subsequent investigations were done revealing absence of female internal genitalia and the presence of abdominal mass, possibly testes. Syndrome has been linked to mutations in AR, the gene for the human Androgen Receptor, located at Xq11-12 leading to the insensitivity of the receptor to testosterone. Gonadectomy was performed and life long Hormone replacement therapy was advised.
完全性雄激素不敏感综合征（CAIS）的发病率约为两万分之一。患有CAIS的人外表为正常女性，尽管其体内存在睾丸且染色体组成为46，XY。我们遇到过这样一个病例，一名17岁女孩因腹股沟疝和闭经前来就诊。后续检查发现其体内没有女性内生殖器，却有腹部肿块，可能是睾丸。该综合征与位于Xq11 - 12的人类雄激素受体基因（AR）发生突变有关，导致受体对睾酮不敏感。患者接受了性腺切除术，并建议进行终身激素替代治疗。
