尿生殖窦部分游离术治疗女性先天性肾上腺皮质增生症所致性发育异常的疗效评估

Evaluation of partial urogenital sinus mobilization of sex development due to congenital adrenal hyperplasia in female children

目的 评估尿生殖窦部分游离术在女性先天性肾上腺皮质增生症(congenital adrenal hyperplasia, CAH)所致性发育异常(disorder of sex development, DSD)治疗中的疗效。方法 回顾性分析2016年4月~2019年11月诊治的CAH导致儿童46,XX DSD患儿的临床资料。术前行膀胱镜检查以测量尿生殖窦共同通道长度,筛选出适合行尿生殖窦部分游离术(partial urogenital sinus mobilization PUM)结合阴蒂整形术和阴唇成形术一期完成外生殖器女性化手术的患儿15例。术后随访会阴部外观、尿动力学检查、下尿路症状以评估疗效。结果 术后所有患儿均获得随访,随访时间分别为术后6个月、1年、2年。尿生殖窦共同通道长度0.9~1.9 cm,平均1.45 cm。患儿切口均Ⅰ期愈合;其中13例外阴外形逼真,1例出现小阴唇一大一小、对称性欠佳,1例阴道狭窄,但无任何病例出现下尿路症状(lower urinary tract symptoms, LUTs);术后均行尿流动力学检查:最大尿流率:12~27 ml/s,充盈期膀胱未见异常,膀胱容量在正常范围,无漏尿;最大排尿期压力未见异常。结论 PUM术对于尿生殖窦共同通道较短(小于1.9 cm)的46,XX DSD患儿有较理想的治疗效果,术后外观逼真,且阴道狭窄、尿动力学检查异常等发生概率低。

Objective To evaluate the effect of partial mobilization of urogenital sinus in the treatment of sexual dysplasia(DSD) caused by female congenital adrenal hyperplasia(CAH).Methods The clinical data of 46,XX DSD children caused by CAH who were diagnosed and treated in the First Affiliated Hospital of Xinjiang Medical University from April 2016 to November 2019 were retrospectively analyzed.Preoperative cystoscopy was performed to measure the common channel length of the urogenital sinus, and 15 children suitable for partial mobilization of the urogenital sinus(PUM) combined with clitoroplasty and labioplasty to complete the feminization of the external genitalia in one stage were selected.Postoperative perineal appearance, urodynamic studies, and lower urinary tract symptoms were followed up to assess efficacy.Results All children were followed up for 6 months, 1 year and 2 years after operation.The common channel length of the urogenital sinus was 0.9-1.9 cm, with an average of 1.45 cm.The incisions of the children were healed by first intention;13 cases had realistic vaginal shape, 1 case had large and small labia minora, poor symmetry, 1 case had vaginal stenosis, but none had lower urinary tract symptoms(LUTs);15 cases who underwent PUM had postoperative urodynamic examination: maximum urinary flow rate: 12-27 ml/s, no abnormality of bladder during filling period, bladder capacity in the normal range, no urine leakage;no abnormality of maximum voiding pressure.Conclusion PUM has an ideal therapeutic effect on 46,XX DSD children with short common channel of urogenital sinus(less than 1.9 cm),with realistic.