SAT358 Race And Ethnicity Of Women With 21-hydroxylase Deficient Non-classic Adrenal Hyperplasia (NCAH) Compared With PCOS

Abstract

Abstract Disclosure: L.A. Pace: None. K.L. VanHise: None. J.L. Chan: None. M.D. Pisarska: None. R. Azziz: Advisory Board Member; Self; Arora Forge. Consulting Fee; Self; Rani Therapeutics, Fortress Biotech, Spruce Biosciences, Core Access Surgical Technologies. Grant Recipient; Self; Foundation for Research and Education Excellence, Ferring Pharmaceuticals. Stock Owner; Self; Martin Imaging. Background: 21-hydroxylase (21-OH) deficient non-classic adrenal hyperplasia (NCAH) is found in 1-10% of androgen excess patients and is one of the most common autosomal recessive disorders in humans. In turn, PCOS has complex inheritance and is one of the most common endocrine disorders of women. Objective: To compare the racial and ethnic distribution of NCAH vs. PCOS in a referral population. Methods: We analyzed data from a database collected prospectively of consecutive female patients presenting with androgen excess at a tertiary care referral clinic. Results: Among 645 consecutive female patients with androgen excess who completed their evaluation, 15 (2.3%) had NCAH and 619 (96.0%) had PCOS defined by the Rotterdam 2003 criteria. Of 15 women with NCAH, 13 (86.7%) were White (10 White Non-Hispanic [WNH] and 3 White Hispanic [WH]), one (6.7%) was Asian, and one (6.7%) was of mixed race. Of PCOS subjects, 479 (77.4%) were White (347 WNH, 121 WH, and 11 of undocumented ethnicity), 65 (10.5%) were Black (55 Black Non-Hispanic [BNH], 5 Black Hispanic [BH], and 5 were Black of undocumented ethnicity), 47 (7.6%) were Asian Non-Hispanic (ANH), 6 (1.0%) were Native Hawaiian/Pacific Islander Non-Hispanic, 14 (2.3%) were of mixed race (4 Hispanic and 10 Non-Hispanic), and 7 (1.1%) were other or undocumented race. Comparing key phenotypic features, the mean (±SD) age at first visit for NCAH patients was 33.1 (±14.1) years vs. 28.9 (±6.9) for PCOS (p=0.03); mean BMI of NCAH patients was 27.7 (±8.2) kg/M2 vs. 30.2 (±8.2) in PCOS (p=0.26); mean Ferriman-Gallwey (FG) score for NCAH patients was 8.6 (± 6.2) vs. 6.7 (±5.1) PCOS (p=0.19); and mean menstrual cycles per year were 7.8 (±5.2) in NCAH vs. 6.0 (±3.9) in PCOS (p=0.12). Conclusions: Phenotypically, patients with NCAH were slightly older, but did not differ in BMI, degree of hirsutism, or menstrual dysfunction vs. PCOS patients, emphasizing the need to screen for NCAH using basal follicular-phase measurements of 17-hydroxyprogesterone. However, there were notable racial differences between the NCAH and PCOS cohorts. While 10% of PCOS patients were Black in this referral clinic database, no patient with NCAH was Black. The paucity of NCAH among Black individuals evaluated for androgen excess mirrors the ethnic/racial distribution in the classic form of 21-OH deficient adrenal hyperplasia. These data question whether Black women suspected of androgen excess or PCOS should be routinely screened for NCAH. Presentation Date: Saturday, June 17, 2023