Genital anomalies in girls with imperforate anus: A 20 year review

Abstract

Background Pediatricians and pediatric gynecologists need to be aware of genital anomalies associated with imperforate anus. Methods In a retrospective review of patients with vaginal anomalies in a single children's hospital from 1964 to 1984, the largest subgroup 40 patients,(43%) had a vaginal anomaly with imperforate anus. Results 23 patients had the anus terminating in a “recto-vaginal” fistula recorded as the sole genital anomaly. Seventeen (43%) of patients in this subgroup had imperforate anus and a major genital anomaly. Five of these had cloacal type anomalies. Five others had vaginal atresia (one with a bicornuate uterus also; another had ambiguous genitalia; two had urogenital sinuses, one of whom had a bicornuate uterus). Two patients had uterine agenisis; two others had vaginal duplication (both with two uterine horns). The remaining patients had double uterine horns as the sole genital anomaly. Conclusion Some of the genital anomalies in these 17 patients may not be readily identified by initial physical examination or newborn ultrasound. This may represent only a fraction of girls with this combination of anomalies as the denominator in the study was “identified vaginal anomalies”. It is, therefore, recommended that patients with any type of imperforate anus have frequent genital exams in childhood and full genital evaluation including an ultrasound in a prepubertal Tanner II Stage in order to identify “obstructed”, genital anomalies missed in the newborn period. This is especially important for pediatricians and pediatric gynecologists to be aware of as females more commonly have a low imperforate anus and may be continent. They may be, therefore, lost to follow up of the surgeon and the pediatric service may be the only source of contact.