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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 1 family of 6 patients with complete androgen insensitivity syndrome (CAIS) and review the literature. Methods 3-year-old female, gender female, chromosome karyotype 46, XY, bilateral inguinal testis, right incarcerated hernia multiple incarceration. Family survey of another 5 people sick. Review of clinical features, diagnosis and treatment. Results There was no uterine attachment in the laparoscopic abdominal cavity, and the modified two-hole method of 18G vein-assisted laparoscopic assisted laparoscopic high right ligation of the neck and high ligation of the left sheath. Conclusion CAIS is a X-linked recessive genetic disease, laparoscopy has the value of diagnosis and treatment, it is necessary to strengthen psychological support and treatment of prenatal diagnosis and genetic analysis.