Sigmoid vaginoplasty in a patient with combined VACTERL and MURCS associations: A case report

Introduction The coexistence of VACTERL (vertebral anomalies, anorectal malformation, cardiac defects, tracheoesophageal fistula, renal, and limb anomalies) and MURCS (Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia) associations has rarely been reported. Case presentation A female infant was born at 39 weeks of gestation with a birth weight of 2430 g. She demonstrated type C esophageal atresia, an anocutaneous fistula, left renal agenesis, and vertebral anomalies, fulfilling the diagnostic criteria for VACTERL association. Primary repair of the esophageal atresia was performed during the neonatal period. Anoplasty for the anocutaneous fistula was electively performed at 1 and 11 months of age, as the patient maintained an adequate bowel function via the fistula. Although vaginal introitus could not be identified at the time of anoplasty, further evaluation of the internal genital anatomy was intentionally deferred until adolescence, when reconstructive options could be discussed with the patient. Pelvic magnetic resonance imaging at 12 years old revealed uterine and vaginal agenesis with normal ovaries, establishing the diagnosis of Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome with MURCS association. At 14 years old, sigmoid vaginoplasty was performed without complications. She performs regular self-dilation of the neovagina. Her renal function gradually declined since birth, and she was currently classified as having stage 3 chronic kidney disease. Conclusion Females with VACTERL association should undergo a thorough evaluation of their internal and external genitalia. Although rare, Mayer–Rokitansky–Küster–Hauser syndrome can occur in females with VACTERL association. Elective sigmoid vaginoplasty after puberty is a feasible reconstructive procedure.