Complexities of Müllerian Anatomy in 46XX Cloacal Exstrophy Patients

Study Objective: To characterize Müllerian anatomy in 46,XX cloacal exstrophy patients. Design: Retrospective review of prospectively maintained, institutionally approved exstrophy-epispadias-cloacal exstrophy database. Setting: Tertiary care, high-volume exstrophy center (Division of Pediatric Urology, The Johns Hopkins Hospital, Baltimore, Maryland). Participants: We included 31 patients who were genetically female with cloacal exstrophy for whom records included detailed evaluation of Müllerian anatomy. Interventions: None. Main Outcome Measures: Müllerian structures, method of evaluation, management, and sexual activity. Results: Of our patients, 12.9% (3/31) had no identified abnormalities. Vaginal anatomy was described for 30 patients; 3/30 had vaginal agenesis, 14/30 had a single vagina, and 13/30 had vaginal duplication. Of 14 patients with 1 vagina, 5 had atresia/hypoplasia, and 1 had a lateral displacement. One patient with 2 vaginas also had distal atresia. Of the cervices evaluated, 9/14 were duplicated (2/9 with a solitary vagina), and 19/27 of the uteri were duplicated (6/22 with 1 vagina, 1/22 with no vagina). Five patients required imaging to fully characterize their anatomy, and 7 patients had studies that failed to identify Müllerian structures seen in the operating room or on physical examination. Common reconstructive surgeries included vaginoplasties, incisions of vaginal septa, colporrhaphies, and hysterectomies. Sexual activity was confirmed for 3 patients, 2 of whom had conceived. Conclusion: Most female cloacal exstrophy patients exhibit abnormalities of the Müllerian system. Axial imaging and ultrasound are helpful diagnostic adjuncts but do not replace careful physical examination and assessment in the operating room. Further studies of sexual activity and fertility are warranted.