(67) Long-term Outcomes After Feminizing Genitoplasty for Congenital Adrenal Hyperplasia

Background: There is no standard protocol regarding timing and technique of feminizing genitoplasty for patients with congenital adrenal hyperplasia (CAH). Many reconstructive surgeries have been performed in infancy, followed by asymptomatic screening examination under anesthesia (sEUA), although follow up data is limited. We aim to characterize functional outcomes, utility of sEUA, and need for additional surgery after early reconstruction

Methods: This is a retrospective cohort study of patients with 46XX CAH with a history of feminizing genitoplasty who presented for care between 2007-2024, identified by ICD and CPT codes. Physical examination findings, surgeries , and outcomes were recorded. This study was IRB approved

Results: 43 patients met inclusion criteria. The majority of patients (63%) underwent initial feminizing genitoplasty prior to age one. 23 (54%) were post-menarchal with median age of 15 years at the last visit. 44% of patients have never seen a gynecologist. 6 asymptomatic patients underwent sEUA, of whom 1 was recommended to undergo further surgery for persistent urogenital sinus. Despite unremarkable findings at the time of sEUA, two patients required additional surgery after menarche for vaginal stenosis and menstrual obstruction, respectively. Of the total cohort, 11 patients had additional reconstructive or dilation procedures , 5 of whom required surgery after menarche due to vaginal stenosis (3), menstrual obstruction (1), and unsatisfactory appearance with dyspareunia (1). Of the 23 post-menarchal patients, one patient had menstrual obstruction, one (out of 10 total) tampon-users reported inability to use, and three (out of 9 total) sexually active patients reported dyspareunia. 27 (63%) patients did not have any additional surgical procedures following the initial reconstruction . Of this group, 10 were post-menarchal, 2 reported tampon use, and 5 reported sexual activity (1 with dyspareunia).

Conclusions: The majority of patients did not require additional surgery following early feminizing genitoplasty. With a low rate of menstrual obstruction among menarchal patients (1/23), and low rate of abnormal findings on sEUA in asymptomatic patients, EUA can likely be reserved for symptomatic patients. Data limitations include loss to follow up and limited documentation of gynecologic history. However, to further understand and guide practices in CAH care, further longitudinal observation of patients following feminizing genitoplasty is necessary, and implementing uniform gynecologic care is important to identify functional outcomes in patients.