#151 : Partial Urorectal Septum Malformation Sequence

Background and Aims: Cloacal malformations represent a wide range of defects and are considered one of the most challenging and interesting diseases. Occurrence is at 1 in 50,000 newborns and still with an unknown etiology. Partial urorectal septal malformation sequence (URSMS) is a rare and complex congenital anomaly that represents an embryonic event of urinary-rectal septal malformation resulting in the presence of a cloaca.

A 17-year-old nulligravid with imperforate anus at birth with primary amenorrhea was admitted for difficulty urinating. Genital examination noted fused labia with vaginal dimple and absent urethral opening.

Currently, there are no field studies of its incidence in the Philippines and no exact treatment has been described. This case aims to assist gynaecologists in diagnosing and treating patients with this malformation and to help future patients achieve a good quality of life and to be able to function sexually later in life despite these set of conditions.

Method: Abdominal CT scan, 3D ultrasound and MRI all showed uterine didelphys with vaginal duplication and bilateral hydrometrocolpos and vaginal aplasia. A diagnosis of partial URSMS was made using a complete medical history and the above diagnostic procedures correlating with PE. A multidisciplinary conference was held with the agreed plan of laparoscopy, hysterectomy, vaginal septum repair, cystoscopy, urethroplasty, and feminizing genitoplasty.

Results: The opening of the neovagina admitted two fingers and was 4 to 5 centimeters long. Three months after reconstruction, she reported having normal urination with amenorrhea and no recurrence of pelvic pain.

Conclusion: Early and accurate preoperative diagnosis and treatment planning, careful patient selection, and a holistic approach are cornerstones of management. Patient follow-up and long-term psychosocial support are important, as obstruction may recur in poorly compliant patients. If pregnancy does occur in these patients, a multidisciplinary approach to management is important, and the recommendation for delivery is usually cesarean delivery.