完全性雄激素不敏感综合征家系报告并文献复习

The complete androgen insensitivity syndrome within a family:Case report and review

目的报告1家系6例完全性雄激素不敏感综合征(CAIS)并文献复习。方法 3岁患者,社会性别女性,染色体核型46,XY,双侧腹股沟睾丸,右侧斜疝多次嵌顿。家族调查另5人患病。回顾临床特征、诊断与处理。结果腹腔镜探查腹腔未见子宫附件,行改良二孔法18G动静脉留置针腹腔镜辅助右疝囊颈高位结扎及左鞘状突高位结扎。结论 CAIS为X-连锁隐性遗传病,腹腔镜探查有诊治价值,有必要加强心理支持治疗及产前诊断及基因分析。

Objective To report 6 patients within a large family with complete androgen insensivity syndrome（CAIS）and literature review.Methods A 3-year-old girl and other 5 members with CAIS were observed.They were 46XY female.There had two testis located within two side of inguinal canal and inguinal hernia in right side.Literature on clinical features,diagnosis,treatment were reviewed retrospectively.Results There were no uerus and ovarian tissue at pelvic cavity by laparoscopy.At the same time,percataneous extraperitoneal repair hernia in right side and open processus vaginalis in left side by modify two port laparoscopic suturing ligation were performed with 18G vasocan IV catheter.Conclusions CAIS was an X-linked disorder recessive inherited disease.Laparoscopy is a very reasonable procedure in patients.Psychological counseling,prenatal diagnosis and genetic analysis must be performed to CAIS.