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Complexities of Müllerian Anatomy In 46XX Cloacal Exstrophy Patients

Monday, October 22, 2012: 8:57 AM
Grand Ballroom B (Hilton Riverside)
Kristina D. Suson1, Janae Preece, MD2, Heather N. DiCarlo, MD3, Nima Baradaran4 and John P. Gearhart4, (1)Pediatric Urology, Johns Hopkins University School of Medicine, Baltimore, MD, (2)Division of Urology, University of Maryland Medical Center, Baltimore, MD, (3)Urology, Stony Brook University Medical Center, Stony Brook, NY, (4)Division of Pediatric Urology, The Johns Hopkins Hospital, Baltimore, MD

Purpose 46XX patients with cloacal exstrophy often exhibit complex abnormalities of the Müllerian structures.  However, little is known about their incidence and management. The authors questioned which anomalies were present in patients treated at an institution with a long term interest in exstrophy and an established prospective database, and how they were managed.

Methods After obtaining IRB approval, a list of 42 genetic females with cloacal exstrophy was generated from a prospectively maintained, institutionally approved exstrophy database.  Of these, records were available for 35 patients, 31 of which included detailed evaluation of Müllerian anatomy. Data points included Müllerian structures, method of evaluation, management, and sexual activity.

Results Four patients (12.9%) had no identified abnormalities. Vaginal anomalies were divided into abnormalities of number, formation or location. Three patients (9.7%) had vaginal agenesis, while 13 (41.9%) had duplication. Of the patients with 1 vagina, five patients had atresia or hypoplasia, and one had a right-sided orifice and associated Müllerian system. One patient with two vaginas also had distal atresia. Two patients experienced vaginal prolapse. 71.4% of the cervices evaluated were duplicated, 3 of which were associated with a solitary vagina. 72% of the uteri were duplicated; 11% were associated with one vagina, while 5% were associated with no vagina. Most patients were diagnosed with anomalies either through physical exam or in the operating room. Imaging used to assess internal structures included ultrasound, CT and MRI. While 5 patients required imaging to fully characterize their anatomy, 7 patients had studies which failed to identify Müllerian structures. One MRI incorrectly identified 1 vagina and uterus where two vaginas and uteri were described intraoperatively. The most commonly performed reconstructive surgeries included vaginoplasties, incisions of vaginal septa, colporrhaphies, and hysterectomies. Of note, reasons cited for hysterectomy included concern for adequate drainage of menses, connection to the ureters, and patient-requested sterility. Sexual activity was only confirmed for three patients. Two of these patients conceived, one of whom had a spontaneous abortion. The other delivered a healthy baby but later requested hysterectomy secondary to concerns about having future children.

Conclusion Most female patients with cloacal exstrophy exhibit abnormalities of the Müllerian system, most commonly uterine duplication. The best way of diagnosing these anomalies is a good physical exam, including endoscopy. Axial imaging and ultrasound are helpful adjuncts but do not replace careful assessment in the operating room. Accurate and early characterization of the anatomy is vital, as planning for later reconstruction should start at a young age. Future studies of sexual activity and fertility are warranted.