Clinical characteristics of a cohort of 244 patients with congenital adrenal hyperplasia.

Context: Patients with congenital adrenal hyperplasia (CAH) often suffer from long-term complications secondary to chronic glucocorticoid therapy and suboptimal treatment regimens. Objective: The aim of the study was to describe clinical characteristics of a large cohort of pediatric and adult CAH patients. Design and Setting: We conducted a cross-sectional study of 244 CAH patients [183 classic, 61 nonclassic (NC)] included in a Natural History Study at the National Institutes of Health. Main Outcome Measure(s): Outcome variables of interest were height sd score, obesity, hypertensive blood pressure (BP), insulin resistance, metabolic syndrome, bone mineral density, hirsutism (females), and testicular adrenal rest (TART). Results: The majority had elevated or suppressed androgens, with varied treatment regimens. Mean adult height sd score was −1.0 ± 1.1 for classic vs. −0.4 ± 0.9 for NC patients (P = 0.015). Obesity was present in approximately one third of patients, across phenotypes. Elevated BP was mo...