尿生殖窦部分游离术在雄性化46，XX性别发育异常治疗中的应用

Efficacy of partial urogenital sinus mobilization for virilized 46, XX disorders of sex development

目的探讨尿生殖窦部分游离术在雄性化46，XX性别发育异常（disorders of sex development，DSD）女性化手术中的应用，并对其疗效进行评估。方法2010年5月到2015年2月，我院收治15例过度雄性化的46，XX DSD患儿，采用尿生殖窦部分游离（partial urogenital mobilization，PUM）术结合Poppas阴蒂整形术和阴唇成形术一期完成生殖器女性化手术。年龄5个月-13岁，中位年龄28．7个月。通过膀胱镜下测量尿生殖窦共同通道的长度，来决定是否实施PUM术。术后随访尿控情况、阴道口大小和位置及外阴外观等来判断PUM的疗效。结果15例均获随访。随访时间1-5年，平均31．5个月。尿生殖窦共同通道长度1．2-3．0cm，平均1．7cm。外生殖器外观评估：12例（80％）为好，前庭部可见阴道开口，阴道内可进入8-15mm的阴道扩张器（平均10mm）。2例（13．3％）为一般，其中1例小阴唇偏短；另1例术后阴道口位置较深。不满意1例（6．7％），为尿生殖窦共同通道长度近3cm的Prader V级患儿，术后阴道口较深，大阴唇外观皮肤冗多似阴囊，小阴唇偏短。但无一例出现阴道口狭窄。无一例出现尿失禁及尿频、排尿困难等下尿路症状；13例在术后1年以上做了尿流动力学检查，除3例有部分逼尿肌不稳定收缩外，余均无明显异常。结论尿生殖窦共同通道长度小于2cm的雄性化46，XX DSD，PUM术是治疗该畸形的有效方法，术后可获得开口于前庭的无狭窄的阴道、良好的尿控和满意的外生殖器外观。

Objective To evaluate the efficacy of feminizing genitoplasty with partial urogenital sinus mobilization （PUM） for virilized 46,XX disorders of sex development （DSD）. Methods From May 2010 to February 2015,15 cases of virilized 46, XX DSD underwent one-stage feminizing genital procedures,including partial urogenital sinus mobilization, clitoroplasty and labioplasty. The median age was 28. 7 （5-156） months. Prior to genital surgery, the length of common channel （CC） of urogenital sinus （UGS） was measured under cystoscopy. PUM or others was performed depending on this measurement. The postoperative outcomes of PUM including urinary continence, perineal cosmetics and location of vaginal orifice ＆ vaginal stenosis were reviewed. Results Follow-ups were conducted. The mean length of CC was 1.7 （1.2-3.0） cm. And 12 cases （80%） achieved satisfactory cosmetics. Vaginal orifices were seen at vestibular surface and easily calibrated with dilators with a mean diameter of 10 （8-15） mrn. Two cases （13. 30//oo） had moderate cosmetics. And one presented a deep vaginal opening while another had short labia minora. One case （6. 7%） was unsatisfactory due to deep vaginal opening labia majora mimicking scrotum. None had stenoisis of vaginal introitus. There was no onset of such lower urinary tract symptoms as incontinence, frequency of micturition and dysuria. Urodynamic studies were performed in 13 cases after 1 year postoperation. The outcomes were normal except for 3 cases with instable detrusor contractions. Conclusions PUM is efficacious for virilized 46,XX DSD with a CC length of UGS 〈2. 0 cm. Urinary continence and excellent cosmetics with adequate location of non-stenotic vaginal introitus may be achieved.