CYP17(17α-羟化酶)缺陷型的诊断与治疗  

Diagnosis and management of male CYP17 (17-alpha hydroxylase) deficiency

作　　者：李汉忠[1,2] 黄金国[3] 王惠君[1,2] 何方方 孙梅励[1,2] 葛秦生 

机构地区：[1]中国医学科学院 [2]北京100730 [3]马鞍山市人民医院泌尿外科

出　　处：《生殖医学杂志》2000年第4期207-211,共5页Journal of Reproductive Medicine

摘　　要：为了探讨男性 17α-羟化酶缺乏所致两性畸形的诊断方法及治疗效果。总结了我院 1987年 7月～ 1997年 3月共收治 7例确诊为 17α-羟化酶缺乏患者 ,采取双侧性腺切除术加糖皮质激素及雌激素替代治疗。所有患者均维持原女性社会性别及外貌 ,2例已婚者性生活满意。认为 17α-羟化酶缺乏所致男性假两性畸形 ,虽染色体核型为 4 6 ,XY,但外生殖器为女性 ,难以恢复男性应有的性功能 ,发育不良的睾丸组织有潜在恶变可能。因此 ,维持女性社会性别 ,切除两侧性腺 。To discuss the diagnosis and management of 17 α hydroxylase deficiency in male patients. Methods: From July 1987 to March 1997, 7 patients with CYP17 deficiency were treated with glucocorticoid,estrogen, surgical removal of bilateral gonads, and vaginal dilatation or vaginoplasty. Results: All patients remain their female social sex and appearance. Two of them have been married with satisfactory sexual relationship. Conclusions: Patients with 17 α hydroxylase deficiency having 46, XY karyotype, and a female type of external genitalia were little hope to re build up a functional male genitalia. Moreover underdeveloped testes have high risk for malignancies. Therefore, surgical removal of bilateral gonads and vaginal dilation with acrylic mould or vaginoplasty would be the best outcome for their sexual life.

关 键 词：17α-羟化酶缺乏 性腺发育不全 假两性畸形 

分 类 号：R588[医药卫生—内分泌]