ESPE Abstracts

Background: Non-classic congenital adrenal hyperplasia (NCCAH) is a genetic disorder characterized by hyperandrogenism associated with potential metabolic alterations and changes in body composition and bone mineral parameters.

Aim: The purpose of this pilot study was to evaluate the clinical and biochemical characteristics in association with bone mineral parameters and body composition in female patients diagnosed with NCCAH in comparison to female age-matched healthy controls.

Material and methods: A total of forty-five females, aged 10-27 years, were enrolled in this study at a tertiary medical center, including twenty-seven patients with NCCAH (mean age 16.6±3.5 years) and eighteen healthy controls (mean age 15.2±2.1 years). Data was collected on anthropometry, clinical features of hyperandrogenism (hirsutism, acne, alopecia) and menstrual irregularities, and ovarian ultrasound was performed. Hormonal and metabolic markers were assessed and HOMA-IR was calculated. The overweight/obesity prevalence was defined according to IOTF age- and gender-specific BMI cut-offs. Dual-energy X-ray absorptiometry (DXA) was used to determine bone mineral density (BMD), bone mineral content (BMC), fat and lean mass, and fat distribution.

Results: The clinical symptoms of hyperandrogenism were significantly more common in NCCAH girls. Hirsutism was present in 96.3% of the NCCAH females and 50.0% of the controls, P<0.0001, while acne and alopecia were defined in 92.6% and 66.7% of the NCCAH patients, respectively, compared to 44.4% and 22.2% of the healthy females (Pacne<0.0001 and palopecia=0.003). No significant difference was found in the rate of menstrual disorders between groups. The overall prevalence of overweight/obesity was 22.2% and mean body weight, BMI and waist circumference did not differ between NCCAH females and healthy controls. No significant difference was found in the parameters of lipid and glucose metabolism between the groups, but BMI correlated with triglycerides (r=0.384, P=0.009). Testosterone, androstenedione and basal levels of 17OHProgesterone were significantly higher in NCCAH females (P<0.05 for all). Polycystic ovaries were detected by ultrasound in 4.4% of all participants, without significant difference between groups. No differences in bone mineral parameters, body composition and fat distribution were found either. However, %fat mass was associated with insulin concentration (r=0.303, P=0.05) and the presence of hirsutism (r=0.305, P=0.049).

Conclusion: NCCAH in young females is characterized by clinical and biochemical hyperandrogenism associated with insignificant changes in BMD and body composition.