雄性化不全46,XY DSD的处理差异及争论——来自大陆地区15个中心的报告

目的 通过1例46,XY性别发育异常(DSD)会阴型尿道下裂来征集大陆地区15个较大小儿泌尿外科中心16位国内知名专家处理此类病人的解决方案,观察哪些问题的解决意见较为统一,哪些分歧较大而需要今后深入研究.方法 从性别发育异常评估、隐睾的处理、性腺探查、性别分配、小阴茎激素治疗、分期或一期重建尿道、尿道替代材料、下弯矫正方法、阴囊整形及已处理类似病例数等共十三个方面共50余个问题进行问卷调查,将调查结果进行汇总分析.结果 大多数专家认同的有:性别发育异常评估需要多学科(MDT)参与;合并腹股沟隐睾选择与尿道下裂一起手术,但若合并腹腔内隐睾则要酌情考虑是否一期完成;若术中发现性腺可疑异常,应行性腺探查;如选择分期,一期先完成睾丸下降和阴茎伸直,二期尿道重建;合并的小阴茎需先激素治疗;如尿道重建一期完成,选择Duckett+Duplay;如尿道板发育良好,用Snodgrass或Onlay重建尿道;如尿道板发育欠佳,离断尿道;白膜折叠需先游离背侧神经血管束;当弯曲严重,需要腹侧白膜切开,以避免阴茎缩短;需要行阴囊转位术.但在性别发育异常评估内容、尿道重建一期或分期、小阴茎的具体药物应用、阴茎弯曲矫正的方法等多个方面分歧明显.结论 会阴型尿道下裂处理需要在多学科团队的参与下进行全面的性别发育异常评估,在处理细节,多个方面仍存在差异或争议,需要设计良好、前瞻性多中心随机对照来进一步研究.

Consensus and controversy in management of undervirilized 46, XY disorders of sex development

Objective To explore the consensus and controversy of managing 46,XY perineal hypospadias with a questionnaire survey of 16 specialists from 15 domestic pediatric urological centers.Methods The questionnaire contained 13 domains including disorders of sex development,crypotorchidism,gonad,gender assignment,hormonal therapy for micropenis,staged urethral reconstruction,replacement material of urethra,chordee repair,and scrotal plasty similar experiences.The outcomes were analyzed.Results Consensus of most specialists is that evaluations of disorders of sex development should be completed by a multidisciplinary team,Hypospadias with inguinal cryptorchidism should be co-repaired.Intra-abdominal testis may be repaired in Ⅰ/Ⅱ stage depending on the situation.Intra-abdominal gonad is routinely explored with laparoscopy.For staged repair,orchidopexy and cordee repairing are arranged in the first stage and urethral reconstruction in the second stage.Micropenis requires hormonal treatment prior to operation.If hypospadias is repaired in one stage,Duckett plus Duply is recommended.If urethral plate appears healthy,Snodgrass or Onlay is preferred;If non-healthy,transsection is required.Tunica albuginea plication needs freeing of neurovascular band.For severe cordee,ventral lengthening is necessary.Scrotal plasty is recommended.Controversy is conmmon in many other aspects.Conclusions Perineal hypospadias should be evaluated by a multidisciplinary team.Still many controversies persist in the management of similar cases.Further prospective and well-designed case control studies are warranted.