Mayer-Rokitansky-Küster-Hauser syndrome type II associated with congenital anorectal malformation: a case report

Abstract

Mayer-Rokitansky-Küster-Häuser (MRKH) syndrome is a congenital Müllerian duct anomaly. Type II may include renal and skeletal defects, but co-occurrence with anorectal malformation (ARM) and tibiofibular dysplasia in infants is extremely rare. An 8-month-old female presented with constipation, absent anal orifice, perineal cystic fistula, and no vaginal opening, plus right lower limb deformity. Imaging revealed T4–T6 vertebral anomalies, left renal hypoplasia, and right tibiofibular deformity. Cystoscopy showed distal vaginal atresia and rectovestibular fistula; karyotype was 46, XX. Pelvic magnetic resonance imaging and laparoscopy confirmed absent uterus with bilateral ovaries and tubes. Laparoscopically assisted perineal anoplasty was performed, with normal defecation maintained postoperatively. In female infants with congenital ARM and perineal fistula, type II MRKH syndrome should be suspected, especially with urinary or skeletal anomalies. Preoperative endoscopy and laparoscopic exploration are crucial for diagnosis and surgical planning, requiring multidisciplinary care and long-term follow-up.