Increased cardiovascular and metabolic morbidity in patients with 21-hydroxylase deficiency: a Swedish population-based national cohort study (original) (raw)

2015, The Journal of clinical endocrinology and metabolism

Congenital adrenal hyperplasia (CAH) is lethal in its most severe forms if not treated with glucocorticoids. However, glucocorticoids may increase the risk of cardiovascular and metabolic morbidity. To study cardiovascular and metabolic morbidity in CAH. Patients with CAH due to 21-hydroxylase deficiency (n=588; >80% with known CYP21A2 mutations) were compared with controls matched for sex, year, and place of birth (n=58,800). Data were obtained by linking national population-based registers. Subgroup analyses were performed regarding sex, clinical severity (salt-wasting, simple virilising, nonclassic), CYP21A2 genotype (null, I2 splice, I172N, P30L), and stratified by the introduction of neonatal screening, age-groups, and non-obesity. Cardiovascular and metabolic morbidity. In CAH, both any cardiovascular and metabolic disorders (OR 3.9, 95%CI 3.1-5.0), and cardiovascular disease (OR 2.7, 95%CI 1.9 -3.9) were increased. Separate analyses of the individual diseases showed higher...