Gynaecological concerns in cloaca anomaly: A 20-year single-centre experience

Persistent cloaca is a rare form of anorectal malformation, and the literature on long-term gynecological outcomes is limited. We present our experience with cloacal malformations, focusing on gynecological concerns and outcomes in adolescent patients. We also describe our standard assessment and follow-up protocol during puberty and evaluate the concurrence of renal and Müllerian anomalies.

A retrospective cohort study was conducted over a 20-year period (January 2003-September 2023), including patients with a confirmed diagnosis of cloacal malformation. All data were summarized using descriptive statistics.

Twenty-eight patients were identified. The mean age of the patients at the time of study was 8 years (range: 1-20). Uterine didelphys was present in 22 patients (78 %), of whom 6 (21 %) had unilateral or bilateral atretic or rudimentary Müllerian structures requiring surgical resection. Abnormal renal ultrasound findings were identified in 9 patients, with 4 (14 %) showing ipsilateral renal and Müllerian anomalies. Based on the surgical approach for cloacal repair, patients were divided into two groups: Group A underwent urogenital separation, and Group B underwent posterior sagittal anorecto-vagino-urethroplasty with total urogenital mobilization. Eighteen patients underwent primary vaginal pull-through; 5 required vaginal replacement using the rectum, colon, or ileum; 4 had skin flap vaginoplasty; and 1 underwent a vaginal switch procedure. Vaginal complication rates were higher in Group A (58 %) than in Group B (12 %). The overall vaginal stricture rate was 28 %. Of the 15 patients who had reached puberty, 5 experienced menstrual outflow obstruction with retrograde menstruation, and 3 were managed with hormonal suppression therapy until surgical intervention.

Gynecological outcomes in patients with cloacal malformation are largely determined by the presence of an unobstructed menstrual outflow tract at the time of menarche. Abnormal Müllerian structures should be identified early, and surgery-related complications should be addressed promptly. Hormonal suppression therapy should be considered when appropriate until definitive surgical correction is completed. Long-term follow-up throughout puberty is essential, particularly for the timely identification and management of gynecological concerns.