1例完全型雄激素不敏感综合征嵌合体核型患者的诊治分析并文献复习  

Complete androgen insensitivity syndrome:a case report and review of literature

作　　者：梁海琪 洪宇[1] 李纯科 LIANG Haiqi;HONG Yu;LI Chunke(Department of Gynecology and Obstetrics,Macao Kiangwu Hospital,Macao 999078,China)

机构地区：[1]澳门镜湖医院妇产科,中国澳门999078

出　　处：《妇儿健康导刊》2022年第7期192-194,共3页JOURNAL OF WOMEN AND CHILDREN'S HEALTH GUIDE

摘　　要：雄激素不敏感综合征(AIS)是一种由雄激素受体(AR)缺失或缺陷引起的X-连锁隐性遗传病,由于靶器官对雄激素不敏感,患者临床上常表现为性发育障碍,根据AR缺陷程度,临床上又可分为完全型(CAIS)、部分型(PAIS)和轻微型(MAIS)。本文报道CAIS染色体嵌合型患者1例,并通过复习相关文献,进一步加深对该疾病的认识。Androgen insensitivity syndrome(AIS)is an X-linked recessive genetic disease caused by the absence or defect of androgen receptor(AR).Due to the insensitivity to androgen,clinically,patients often manifest as sexual development disorder.According to the grade of the remaining A R function,AIS is clas sified as complete(CAIS),partial(PAIS)or mild(MAIS).This paper analyzed the clinical data of a CAIS patient and reviewed the literature to further deepen the understanding of this disease.

关 键 词：雄激素不敏感综合征 完全型 嵌合型 诊断 治疗 

分 类 号：R588.6[医药卫生—内分泌]