46,XY性发育异常疾病的诊治  

Diagnosis and treatment of 46,XY DSD

作　　者：费迎春[1] 徐哲[1] 刘文旭[1] 谢家伦[1] 李作青[1] 

机构地区：[1]中山大学附属第一医院小儿外科,广东广州510080

出　　处：《中国医药导报》2010年第30期140-141,共2页China Medical Herald

摘　　要：目的:总结46,XY性发育异常疾病的临床特点和合理治疗方法。方法:回顾性分析我院1979年1月～2005年2月收治的26例46,XY性发育异常疾病的临床资料,包括性染色体、性腺、外阴情况、治疗经过等。结果:26例患儿诊断为雄激素不敏感综合征14例,5α-还原酶异常5例,苗勒管永存综合征4例,睾酮合成障碍3例。最终社会性别确定为男性15例,女性11例,确定为女性的均行了睾丸切除术。结论:仔细的临床体格检查,对表型、性染色体核型、性腺组织学方面综合分析对46,XY性发育异常疾病的诊断和分型很重要,应在3岁前确定社会性别。Objective：To summarize the clinical characteristic and rational treatment of 46,XY DSD.Methods：A retrospective analysis was performed on 26 46,XY DSD patients which were admitted in our hospital from 1979.1 to 2005.2,in cluding sex chromosome,gonad,pudendum appearance,course of treatment,etc.Results：There were 14 cases of androgen insensitive syndrome,5 cases of 5α-reducase abnormality,4 cases of Muller＇s duct perpetuity syndrome,3 cases of testosterone dyssynthesis.The social sex were determined to be male in 15 cases,female in 11 cases which were performed or chiectomy.Conclusion：The diagnosis and typing of 46,XY DSD are based on careful physical examination,aggregate analysis of phenotype,sex chromosome,gonads,etc.The social sex should be determined before 3 years old.

关 键 词：46 XY性发育异常疾病 诊断 治疗 

分 类 号：R726.2[医药卫生—儿科]