【摘要】 目的探讨完全性雄激素不敏感综合征(Complete Androgen Insensitivity Syndrome,CAIS)患者的临床表现、诊断及治疗。方法回顾我院收治的2例CAIS患者的临床表现、检查结果及治疗过程。2例患者为孪生"姐妹",女性表型,以原发性闭经为主诉,并接受了染色体、性激素五项、腹部超声、盆腔MRI等检查,确诊后接受后双侧性腺切除术,术后接受雌激素替代治疗。结果 2例患者染色体核型均为46,XY,2例患者的血睾酮、卵泡刺激素、黄体生成素均升高,雌激素水平低于正常女性,外周血染色体检查提示2例患者染色体核型均为46,XY。腹部B超及盆腔MRI均提示盆腔内隐睾,腹腔镜手术探查证实隐睾存在,切除后不久检查提示睾丸组织,未见肿瘤。阴道治疗采用保守治疗,器具扩张。2例患者手术后给予雌激素替代治疗,未见女性第二性征发育停滞等其他并发症。结论CAIS在临床上是一种罕见的疾病,虽然目前对其发病机理已经研究的比较透彻,但其仍缺乏有效的预防,且早期诊断较为困难。男性核型合并女性表型的典型临床表现确诊容易,治疗上原则上选择女性社会性别,切除性腺组织后以雌激素替代治疗维持女性第二性征,阴道的成形以物理方法为主,只有在阴道缺如或物理方法失败的情况下才采取手术重建。更多还原

【Abstract】 Objective To explore the clinical manifestation,diagnosis and treatment of patients with complete androgen insensitivity syndrome(CAIS). Methods The clinical manifestations,test result and treatment process of two cases with CAIS in our hospital were retrospectively studied. The two cases of the twin sisters were female phenotypes with chief complaint of primary amenorrhea. They had received examinations including chromosome,five sex hormones,abdominal ultrasonography and pelvic MRI. They received the bilateral gonadectomy after diagnosis. And they received estrogen replacement therapy after surgery. Results The chromosome karyotypes of two cases were 46,XY. The serum testosterone,follicle stimulating hormone and luteinizing hormone in two cases increased,while their estrogen levels were lower than those of the normal females. Peripheral blood chromosome examination showed that the chromosome karyotypes of two patients were 46,XY. The pelvic cavity cryptorchidism was showed by B ultrasound in abdominal and pelvic MRI,and was confirmed by laparoscopic surgery. After resection,the test result showed that there existed testicular tissues but without tumors. The treatment of vagina was done using conservative vaginal dilators. Two cases were given with estrogen replacement therapy after surgery,and had no female secondary sexual characteristics stagnation and other complications. Conclusion CAIS is a rare disease in clinic. Although its pathogenesis has been studied clearly,CAIS still lacks of effective prevention and it is difficult to make an early diagnosis. The typical clinical manifestations of a female phenotype with male karyotype can be easily diagnosed. The treatment principle is to choose the female gender. Estrogen replacement therapy is given to maintain female secondary sexual characteristics after removal of gonadal tissue. The formation of the vagina is done mainly with the physical method,and its surgical reconstruction is optional only after the failure of the physical method.更多还原