Mayer–Rokitansky–Küester–Hauser (MRKH) syndrome with rectovestibular fistula and imperforate anus

Abstract

Objectives 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. Study design 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. Results 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. Conclusion 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.