Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing 100730, PR China.
Eur J Obstet Gynecol Reprod Biol. 2010 Nov;153(1):77-80. doi: 10.1016/j.ejogrb.2010.07.003. Epub 2010 Jul 24.
The Mayer-Rokitansky-Küester-Hauser (MRKH) syndrome can be either isolated uterovaginal agenesis or associated with other organ anomalies. However, MRKH co-existing with rectovestibular fistula and imperforate anus is uncommonly seen. We present the specific clinical manifestation and discuss the diagnosis and treatment for this unique subtype of MRKH.
We reviewed 133 cases with MRKH admitted in our hospital within a 10-year span. Among them, three cases of uterovaginal agenesis concomitant with rectovestibular fistula and imperforate anus were reported in detail.
This scenario of MRKH with rectovestibular fistula was characterized by the common features of two openings in the perineum along with an imperforate anus. Our patients were older girls whose main complaints were of primary anomerrhea and leakage of loose stool. A one-stage repair of anorectovaginoplasty was used in two patients, and with laparoscopic assistance in one case. Thirty-two similar cases in the previous relevant literature were also systematically reviewed.
MRKH with rectovestibular fistula and imperforate anus is extremely rare. A thorough understanding of this unique entity helps establish the correct and timely diagnosis, and also avoids inappropriate operative treatment.
Mayer-Rokitansky-Küester-Hauser（MRKH）综合征既可以是单纯的子宫阴道发育不全，也可以与其他器官异常相关。然而，MRKH 同时合并直肠阴道瘘和肛门闭锁并不常见。我们介绍了这种独特亚型 MRKH 的具体临床表现，并讨论了其诊断和治疗方法。
我们回顾了 10 年内我院收治的 133 例 MRKH 患者，详细报告了其中 3 例子宫阴道发育不全合并直肠阴道瘘和肛门闭锁的病例。
这种直肠阴道瘘伴发 MRKH 的情况具有会阴有两个开口且肛门闭锁的共同特征。我们的患者均为年龄较大的女孩，主要主诉为原发性无月经和稀便漏出。2 例患者采用一期经肛门直肠阴道成形术，1 例患者在腹腔镜辅助下进行。我们还对之前相关文献中的 32 例类似病例进行了系统回顾。
直肠阴道瘘伴发 MRKH 和肛门闭锁极为罕见。对这种独特实体的充分理解有助于确立正确及时的诊断，避免不适当的手术治疗。
