Assessment of early atherosclerosis and left ventricular dysfunction in children with 21-hydroxylase deficiency

We analysed 25 children with 21-hydroxylase deficiency who received glucocorticoid and/or mineralocorticoid treatment for at least 12 months to determine the effects of the disease and its treatment on vascular structures and ventricular function.

Twenty-five patients with 21-hydroxylase-deficient congenital adrenal hyperplasia (CAH) and 25 control subjects were enrolled into this observational, cross-sectional study. The patients were investigated in terms of fasting blood glucose and insulin; fasting serum lipid profile; serum 17-hydroxyprogesterone; dehydroepiandrosterone sulphate; androstenedione; and adrenocorticotropic hormone. M-mode tracings of the wall motion of major arteries were obtained to measure carotid intima-media thickness (cIMT), as well as elasticity and distensibility of the aorta and carotid artery. Conventional and relatively new tissue Doppler imaging techniques were employed to assess ventricular systolic and diastolic functions.

The median age and weight of patients were 9·4 years (1·5-16·75) and 35·5 kg (7·5-76·3), respectively. The median duration of treatment was 52·2 months. Tissue Doppler imaging measurements revealed left ventricular diastolic impairment in the patient group compared to the controls. Carotid intima-media thickness, stiffness index, elastic modulus of the aorta and carotid artery were significantly higher; meanwhile, aortic distensibility and carotid distensibility were lower in the patient group, all of which indicates the presence of subclinical atherosclerosis. BMI was found to be an independent variable for cIMT (ß: 0·5, P = 0·01) and aortic stiffness index (ß: 0·52, P < 0·001).

Cardiovascular function and the elastic properties of major arteries are disturbed in children and adolescents with 21-hydroxylase-deficient CAH.