【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。更多还原

【Abstract】 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.更多还原