成年后诊断完全性雄激素不敏感综合征并完成社会性别转换一例  

Complete androgen insensitivity syndrome with gender transition in adulthood: A case report

作　　者：蒲美岑 王丹[1] 何美男 范新钊 邹梦晨[1] 黄奕娟 李际敏[1] 赵善超[3] 廖云君[4] 薛耀明[1] 曹瑛[1] Pu Meicen;Wang Dan;He Meinan;Fan Xinzhao;Zou Mengchen;Huang Yijuan;Li Jiming;Zhao Shanchao;Liao Yunjun;Xue Yaoming;Cao Ying(Department of Endocrinology and Metabolism,Nanfang Hospital,Southern Medical University,Guangzhou 510515,China;Department of Endocrinology and Metabolism,Nanfang Hospital Zengcheng Campus,Southern Medical University,Guangzhou 510515,China;Department of Urology,Nanfang Hospital,Southern Medical University,Guangzhou 510515,China;Department of Plastic Surgery,Nanfang Hospital,Southern Medical University,Guangzhou 510515,China)

机构地区：[1]南方医科大学南方医院内分泌代谢科,广州510515 [2]南方医科大学南方医院增城分院内分泌代谢科,广州510515 [3]南方医科大学南方医院泌尿外科,广州510515 [4]南方医科大学南方医院整形外科,广州510515

出　　处：《中华内分泌代谢杂志》2024年第7期602-607,共6页Chinese Journal of Endocrinology and Metabolism

摘　　要：完全性雄激素不敏感综合征(CAIS)的特征是雄激素受体应答障碍, 导致靶器官完全缺乏雄激素作用, 外生殖器表现为女性化发育, 通常推荐以女性身份生活。本文报道1例成年后诊断为CAIS合并性别焦虑的患者, 其左侧盆腔肿物切除术后病理考虑隐睾并发Leydig细胞瘤, 基因检测示雄激素受体基因3号外显子缺失突变。患者在随访中出现性别重分配, 完成女性向男性社会性别转换, 为CAIS患者性别分配提供新的参考。Complete androgen insensitivity syndrome(CAIS)is characterized by lack of androgen response in target organs due to androgen receptor dysfunction,resulting in feminized external genitalia.Individuals with CAIS are typically advised to live as females.This article reports a patient diagnosed with CAIS and gender dysphoria in adulthood.Following the removal of a left pelvic mass,pathology indicated cryptorchidism with a concurrent Leydig cell tumor.Genetic testing revealed a deletion mutation in exon 3 of androgen receptor gene.During follow-up,the patient underwent gender reassignment,transitioning socially from female to male.This case provides new insights into gender allocation for CAIS patients.

关 键 词：完全性雄激素不敏感综合征 性别焦虑 性发育异常 

分 类 号：R588[医药卫生—内分泌]