完全性雄激素不敏感综合征1例  

Complete androgen insensitivity syndrome: A case report

作　　者：李晓 孟黎明 姚红梅[2] LI Xiao;MENG Liming;YAO Hongmei(Jining Medical University of Clinical Medicine,Jining,Shandong 272067,China;Affiliated Hospital of Jining Medical University,Jining,Shandong 272029,China)

机构地区：[1]济宁医学院临床医学院,山东济宁272067 [2]济宁医学院附属医院,山东济宁272029

出　　处：《中国优生与遗传杂志》2024年第10期2159-2162,共4页Chinese Journal of Birth Health & Heredity

基　　金：山东省教育厅课题“以岗位胜任力为导向的妇产科学专业学位研究生临床能力培养研究”(SDYJG21216)。

摘　　要：目的本研究旨在探讨1例由雄激素受体基因突变引发的X连锁隐性遗传病雄激素不敏感综合征的临床症状,以供临床诊断参考。方法对1例因“原发性闭经”就医,通过患者的临床症状、相关检查结果、染色体核型分析及病理诊断资料诊断为完全性雄激素不敏感综合征,并进行探讨分析。结果患者以“原发性闭经”为主要临床表现,外周血320~400条带染色体分析显示染色体核型46,XY,盆腔肿物常规病理学报告考虑为睾丸及附件组织。结论本文报道1例因雄激素受体基因突变引发的完全性雄激素不敏感综合征患者,为原发性闭经症状的诊断提供思路,并加深对本病的临床认识。Objective To investigate the clinical symptoms of androgen insensitivity syndrome,an X-linked recessive genetic disease caused by androgen receptor gene mutations,and to provide reference for clinical diagnosis.Methods The clinical symptoms,related examination results,karyotype analysis and pathological diagnosis data of a patient diagnosed with complete androgen insensitivity syndrome by karyotype analysis were analyzed.Results The main clinical manifestation of the patient was“primary amenorrhea”,and the chromosome analysis of 320-400 bands in peripheral blood showed chromosome karyotype 46,XY,and the routine pathology report of pelvic mass was considered to be testicular and adnexal tissue.Conclusion This article reports a patient with complete androgen insensitivity syndrome caused by androgen receptor gene mutation,which provides ideas for the diagnosis of primary amenorrhea symptoms and deepens the clinical understanding of this disease.

关 键 词：雄激素不敏感综合征 性别发育异常 睾丸女性化综合征 原发性闭经 

分 类 号：R711.1[医药卫生—妇产科学]