Metabolic disorders in newly diagnosed young adult female patients with simple virilizing 21-hydroxylase deficiency

Classical congenital adrenal hyperplasia (CAH) is characterized by the defects in cortisol and aldosterone secretion, and accompanied with adrenal hyperandrogenism. It is likely that the impaired adrenocortical function and intermittent treatment-related hypercortisolism may predispose patients to the development of metabolic syndrome in adulthood. Our aim was to assess the impact of hyperandrogenism on metabolic profiles in CAH women without glucocorticosteroid treatment. We evaluated the clinical characteristics and metabolic profiles in 30 untreated Chinese female adults with simple virilizing congenital adrenal hyperplasia (SV–CAH). Mutation analysis was performed by sequencing the entire 21-hydroxylase gene (CYP21A2). As compared with the controls, CAH patients had higher BMI (BMI, 21.5 ± 2.1 vs. 20.0 ± 1.8 kg/m², P < 0.05), higher 2 h post-load plasma glucose levels (6. 35 ± 1.74 vs. 5. 35 ± 1.17 mmol/l, P < 0.05), higher serum triglycerides (TG) (1.12 ± 0.64 vs. 0.63 ± 0.15 mmol/l, P < 0.01), and lower high-density lipoprotein cholesterol (HDL-c) (1.30 ± 0.39 vs. 1.67 ± 0.29 mmol/l, P < 0.01). Moreover, CAH patients had higher fasting insulin and homeostasis model assessment of insulin resistance (HOMA-IR) (1.81 ± 0.99 vs. 1.24 ± 0.50, P < 0.05), while ΔIns30/ΔGlu30 showed no statistically significant difference in two groups. In addition, a marked reduction of serum adiponectin levels were observed in CAH patients (7.0 ± 3.3 vs. 13.2 ± 4.8 μg/ml, P < 0.001), however, serum CRP levels were not different between patients and the controls. Further regression analysis showed that higher serum testosterone concentrations were associated with metabolic disorder indexes and reduction of serum adiponectin. Our study demonstrates that untreated CAH patients are prone to have metabolic disorders in association with elevated serum testosterone levels and reduced insulin insensitivity.