【摘要】 目的:探讨21例性发育异常(disorders of sex development,DSD)患者临床特点,进一步提高对该病的认识与诊治水平。方法:回顾性分析2013年1月至2019年8月在广东省妇幼保健院妇科、小儿外科住院收治21例DSD患者临床资料。结果:XO/XY性腺发育不全2例,真两性畸形2例,克氏综合征1例,XY单纯性腺发育不全3例,先天性肾上腺皮质增生症6例,完全型雄激素不敏感综合征7例。主要以青春期后无月经来潮或外生殖器发育异常就诊。体查可见女性第二性征或者男性外生殖器发育不良。13例患者行腹腔镜检查术,其中11例行双侧性腺切除术,2例性腺活检。1例进行乙状结肠代阴道成形术,5例阴蒂矫形术。部分患者术后病理提示性腺肿瘤。大部分患者术后予激素治疗。结论:DSD患者临床表型具有高度异质性,需多学科临床医生团队协助诊治。DSD早发现早诊断对于决定性别后外生殖器整形及性腺处理有重要意义。更多还原

【Abstract】 Objective:To investigate the clinical features of disorder of sex development(DSD)in 21 patients,so as to improve the understanding and diagnosis of the disease.Methods:The clinical data of 21 DSDpatients admitted to the Gynecology and Pediatric Surgery Departments of Guangdong Maternal and Children’sHospital between January 2013 and August 2019 were retrospectively analyzed.Results:There were two cases ofXO/XY gonadal dysgenesis,two of true hermaphroditism,one of Klinefelter syndrome,three of XY completegonadal dysgenesis,six of congenital adrenal hyperplasia,and seven of complete androgen insensitivity syndrome.The patients was mainly diagnosed when they sought medical attention for absence of menarche or abnormaldevelopment of the external genitalia after puberty. On physical examination,anomalies in female secondary sexualcharacteristics or male genital were found. Thirteen patients underwent laparoscopy,among whom,11 underwentbilateral gonadal resection and two underwent gonadal biopsy. One patient underwent sigmoid colon vaginoplastyand five underwent clitoroplasty. Pathology showed gonadal tumors in a few of the patients. Most patients weregiven hormone therapy after surgery.Conclusion:The clinical phenotypes of DSD in these patients are highlyheterogeneous,which requires a multidisciplinary collaboration for diagnosis and treatment. Early detection anddiagnosis of DSD is of great significance for sex determination,subsequent plastic surgery of the external genitalia,and gonads management.更多还原