Sexual function, body image and genitourinary anatomy of adult women with classic congenital adrenal hyperplasia

Background: The classic form of congenital adrenal hyperplasia (CAH) results in excessive androgen exposure in utero, resulting in varying degrees of atypical genitalia present at birth. Often feminizing genitoplasty is performed early in life, depending on the degree of virilization. However, this practice has become controversial with organizations such the Human Rights Campaign advocating for, “a moratorium on all surgical procedures that seek to alter the gonads, genitals, or internal sex organs of children with atypical sex characteristics too young to participate in the decision, when those procedures both carry a meaningful risk of harm and can be safely deferred.” Despite the controversy, there remains little data on quality of life, sexual function, lower urinary tract function, anatomy or body image in patients who have undergone these procedures. Methods: Patients were recruited from across the U.S. as part of the ongoing Natural History Study of Patients with Excess Androgen (NIH) (https://clinicaltrials.gov; #NCT00250159). They completed four questionnaires including the Female Sexual Function Index (FSFI), Bristol Female Lower Urinary Tract Symptoms (BFLUTS), the SF-36 quality of life questionnaire, and disease-related body image scale. Physical examination was performed by a single gynecologist and includes vaginal length and caliber, clitoral height, width, and length, genital hiatus, and perineal body. In future study progression, results will be compared to age, race, and marital-status matched controls. Results: Our initial five research subjects ranged in age from 19 to 28. Four of our patients underwent feminizing genitoplasty with age of initial surgery taking place between 2 months and 10 months of age. All patients who underwent feminizing genitoplasty underwent at least one surgical revision, performed between ages 3 to 19. Surgeries were done at various medical centers in the U.S. Significant anatomic variation was noted with such findings as fused labia minora, absence of erectile clitoral tissue, and severe vaginal stenosis. Conclusions: Limited data inform current decisions regarding surgical management of atypical genitalia in patients with CAH. Exam findings in our study thus far reveal young age at initial surgery, common experience of multiple surgeries, and significant anatomic variation in our evaluation of adult women with CAH.