46, XY 性发育异常的诊断与治疗  

Diagnosis and treatment for 46, XY disorder of sexual development

作　　者：郭卉[1] 朱惠[1] 韩兵[1] 李琴[1] 林东平[1] 乔洁[1] 王忠[2] 刘建华[3] 程开祥[4] 陆颖理[1] 

机构地区：[1]上海交通大学医学院附属第九人民医院内分泌代谢科,内分泌代谢研究所,200011 [2]上海交通大学医学院附属第九人民医院泌尿外科,200011 [3]上海交通大学医学院附属第九人民医院妇产科,200011 [4]上海交通大学医学院附属第九人民医院整形外科,200011

出　　处：《中华内分泌代谢杂志》2015年第2期195-198,共4页Chinese Journal of Endocrinology and Metabolism

基　　金：国家重点基础研究发展计划（2012CB524906）;国家自然科学基金（81270885）

摘　　要：回顾性分析1981年1月～2013年12月本院收治的115例46, XY 性发育异常（46, XY DSD）患者的临床资料。115例患者中,社会性别为女性72例,男性43例。年龄1～70岁,平均年龄（19.9±9.7）岁。患者入院后经病史、体检、染色体核型分析、内分泌检查、影像学检查、内镜探查及病理检查,确诊为46, XY DSD,并对其病因进行分类。治疗首先进行性别认定和选择,然后综合运用手术治疗、药物治疗和心理学支持等。手术方式包括矛盾性腺切除、男女外生殖器管整形或成形术等。所有患者性染色体核型均为46, XY。46例患者病因分类未明,69例患者病因分类明确,病因分类包括性腺发育不良、雄激素合成或功能障碍及其他因素等。12例患者因各种原因放弃治疗出院,10例患者给予单独药物治疗,93例患者给予手术＋药物治疗,其中37例术后性别为男性,56例为女性。术后给予相应的雌激素或雄激素替代治疗。Clinical data of 115 cases with 46, XY disorder of sexual development（46, XY DSD） collected from January 1981 to December 2013 were retrospectively analyzed. Among the 115 cases, 72 were socially female and 43 male. The mean age was （19. 9 ± 9. 7） years （1-70）. The 46, XY DSD was confirmed by medical history, physical examination, karyotype analysis, endocrine examination, imaging examination, endoscopic examination and pathological examination. Firstly, the gender was identified and selected. And then, the patients were given surgical treatment, drug therapy and psychological support. The surgical procedures included excision of the contradictory gonads and plasty of external genitalia in male or female individuals. Genetic examination showed that the sex chromosome karyotypes of all cases were 46, XY. The etiological classifications were indefinite in 46 patients and definite in 69 patients. The primary classification included gonadal dysgenesis, dysfunction of androgen synthesis or utilization, and others. Among the 115 patients, 12 cases were not treated for various reasons, 10 cases were treated with drug therapy alone, and 93 cases were given surgical and drug treatment. After the operation, 37 cases became male in gender and 56 cases female, and all of them were treated with respective hormone replacement.

关 键 词：性发育异常 诊断 治疗 

分 类 号：R588[医药卫生—内分泌]