39. Evaluation for Gynecologic Anomalies in Girls with Imperforate Anus.

The most common anorectal malformation in girls is imperforate anus (IA). There is a known association between gynecologic anomalies and IA, but data are limited. The approach to gynecologic evaluation in girls with IA is not well described and may contribute to neglect of gynecologic evaluation in these patients. One hundred forty-four patients with imperforate anus were retrospectively reviewed with a focus on gynecologic evaluation. Cloacal malformations were excluded. Statistical analysis included descriptive statistics, Chi squared, and Fisher's exact tests. IRB approval obtained. Seventy-eight (54%) patients had any type of gynecologic evaluation. Thirty-six (25%) had both vaginal evaluation and pelvic imaging, 68 (47%) had pelvic imaging, and 45 (31%) had vaginal evaluation. Of those with gynecologic evaluation, 28 (36%) were found to have an anomaly, all with an upper genital tract anomaly and 19 (24%) also with a lower genital tract anomaly (Table 1). Of 28 patients with a normal vagina and single cervix noted on vaginoscopy, 6 (21%) were found to have a uterine anomaly on imaging. Seven patients had uterine anomalies diagnosed on pelvic ultrasound prior to age 2; however, three patients eventually diagnosed with a uterine anomaly had an initial pelvic ultrasound read as normal. Comparing girls with a gynecologic anomaly to those without, there was a significant difference in age (13.0 years vs 6.6 years, p<0.01) and having at least one additional anatomic anomaly (93% vs 68%, p=0.01) but no difference in other baseline characteristics (Table 2). Girls with IA were also noted to have non-anatomic gynecologic complaints such as labial adhesions (3, 2%), urethral prolapse (2, 1%), and precocious puberty (3, 2%). Our study reiterates the high incidence of gynecologic anomalies in girls with IA without cloaca, consistent with findings in prior case series. We found the incidence of uterine anomaly is high even with normal vaginoscopy. Universal vaginoscopy in this population, ideally by a gynecologist, has been previously recommended. Based on our findings, we also recommend universal pelvic imaging in addition to vaginoscopy. Given parents express a desire for earlier knowledge of gynecologic anatomy, we recommend pelvic ultrasound at the time of initial diagnosis/evaluation and again at puberty. Despite previous reports of this association, gynecologic evaluation of girls with IA without cloaca remains inconsistent. Ultimately, increased awareness of the need for gynecologic assessment in girls with IA is needed along with further studies to increase understanding of the association. [ABSTRACT FROM AUTHOR]