Abstract
Background: There is need for data on long-term patient outcomes following feminizing genitoplasty (FG) in females with congenital adrenal hyperplasia (CAH). We aim to describe postoperative and longitudinal psychosocial, endocrine, gynecologic, and urologic outcomes. Methods: We performed a retrospective review of past 20 years looking at females with CAH status post FG. Patients without follow-up were excluded. We captured demographic data, intraoperative details, 30-day complication rates, and longitudinal outcomes. Results: Twenty patients met inclusion criteria. Prader scores ranged from 3-5. Median age at surgery was 1.0 year (IQR 0.6, 1.3). Median follow-up was 4.5 years (IQR 0.7, 9.6). Genetic testing was performed in 15/20 and all had causative variants in the CYP21A2 gene. Thirty-day surgical complications occurred in 5/20 patients (Clavien I-IIIb). All patients over 3 years were toilet trained, with only 1 patient requiring surgery for urinary incontinence. In post-pubertal patients, 5/6 had vaginal stenosis at median age 17.8 years (IQR 14.9, 21.1). Four patients received treatment for behavioral/psychiatric diagnoses. No patient had gender dysphoria. Conclusion: FG is safe as demonstrated by our low major complication rate. Our experience highlights the value of multidisciplinary care through adolescence and young adulthood to support long-term medical and psychosocial outcomes in females with CAH.
Highlights
Ambiguous genitalia occurs when anatomic, gonadal and/or chromosomal sex are in disagreement; it has been shown to occur in 1 in 1,000-4,500 live births [1]
We retrospectively reviewed our institutional database from January 1999 through January 2019
We looked at the proportion of vaginal stenosis in the entire cohort, and separately in patients who had achieved menarche or were post-pubertal
Summary
Ambiguous genitalia occurs when anatomic, gonadal and/or chromosomal sex are in disagreement; it has been shown to occur in 1 in 1,000-4,500 live births [1]. Congenital adrenal hyperplasia (CAH), the most common cause of ambiguous genitalia in the newborn female, is due to deficiencies in the enzymes responsible for cortisol synthesis. The traditional approach to these patients was to perform feminizing genitoplasty in. Katie Lynn Canalichio et al.: Feminizing Genitoplasty in Congenital Adrenal Hyperplasia: 20-year. There is need for data on long-term patient outcomes following feminizing genitoplasty (FG) in females with congenital adrenal hyperplasia (CAH). Median age at surgery was 1.0 year (IQR 0.6, 1.3). Median follow-up was 4.5 years (IQR 0.7, 9.6). In post-pubertal patients, 5/6 had vaginal stenosis at median age 17.8 years (IQR 14.9, 21.1).
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