腹腔镜诊治性发育异常11例临床病理分析

The clinicopathological analysis of laparoscopy in the diagnosis and treatment of 11 cases with disorders of sex development

目的探讨性发育异常（disorders of sex development,DSD）的早期诊断及治疗方案选择。方法回顾性分析两家医院2009-01~2015-10根据临床表现、实验室检查和（或）腹腔镜探查术、病理确诊的11例DSD患者及术后激素替代治疗效果。结果 11例患者中6例为46,XY单纯性腺发育不全,1例混合性腺发育不全,1例完全雄激素不敏感综合征（CAIS）,2例不完全雄激素不敏感综合征（PAIS）,1例先天性肾上腺皮质增生（congenital adrenal hyperplasia,CAH）。11例中有1例为21-羟化酶缺乏,1例病理诊断为性腺母细胞瘤,2例考虑肿瘤细胞,不能确定1例。人工周期维持月经5例。结论对于DSD患者尽可能早期诊断及选择治疗,避免按＂不孕症＂误治。

Objective To explore early diagnosis and treatment options of disorders of sex development（ DSD）. Methods Eleven cases with DSD were selected from two hospitals between 2009 and 2015 according to their clinical manifestations,laboratory tests and or laparoscopic results. The pathologic diagnosis and the effects of hormone replacement therapy after surgery were retrospectively analyzed. Results Of the 11 cases,six cases were46,XY pure gonadal dysgenesis; 1 case was mixed gonadal dysgenesis; one case was complete androgen insensitivity syndrome; two cases were incomplete androgen insensitivity syndrome,and one case was congenital adrenal hyperplasia（ CAH）. Of the 11 cases,1 case was 21-hydroxylase deficiency; one case was diagnosed as gonadal blastoma; two cases were considered to be tumor cells; one case can not be diagnosed. 5 cases maintained the artificial menstruation cycles. Conclusion For patients with abnormal gonadal development,early diagnosis and proper treatment should be given as soon as possible,avoiding mistreatment of ＂sterility＂.