Urorectal septal defects in a female and her offspring

We report on a patient with an ectopic urethra opening into a septate vagina which was distended with urine. The anus and rectum were normal but separated from the urogenital sinus by a thin septum. After surgical repair the patient did well with the exception of recurrent urinary tract infections. At 16 years, she delivered a healthy boy by Cesarean section but miscarried a subsequent pregnancy 3 years later. The 12-13 week female fetus lacked a urethra and had an atretic vagina and cloacal anomalies consistent with a urorectal septum developmental defect. This report provides evidence that cloacal anomalies resulting from the improper development of the urorectal septum may have a genetic cause. Furthermore, we support the proposition previously set forth by Allen and Husmann [J Urol 145:1034-1039, 1991] that such anomalies be referred to as urorectal septal defects rather than cloacal anomaly variants. This terminology accurately represents the developmental defect and clearly distinguishes them from cloacal exstrophies, which are due to the abnormal development of the cloacal membrane and the subumbilical ventral abdominal wall.