Alterations in lipid and carbohydrate metabolism in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

BACKGROUND

Classic 21-hydroxylase deficiency (21HD) presents some traits of the metabolic syndrome.

AIM

To characterize discrete alterations of lipid and carbohydrate metabolism in children and young adults with classic 21HD, which could predict early atherogenesis.

PATIENTS AND METHODS

Twenty-seven Caucasian patients with classic 21HD (4-31 years); 27 sex-, age- and BMI-matched controls. Clinical parameters, hormonal status and genotype were assessed in all patients. Lipid parameters, including relative (%) and absolute (mg/dl) small-dense low-density lipoproteins subfractions (sd-LDL) were measured in patients and controls. Oral glucose tolerance tests were performed in both groups.

RESULTS

sd-LDL (%) was significantly higher in patients than controls (39.7 +/- 5.9 vs. 35.5 +/- 5.7%; p = 0.008). The same applies for absolute sd-LDL (mg/dl) (42.6 +/- 11.9 vs. 36.4 +/- 7.5; p = 0.029). HDL-cholesterol was lower in patients (p = 0.032). Fasting glucose and insulin were significantly higher in patients. Similar differences were noticed for HOMA-IR (p = 0.001), IRI (p = 0.001) and HOMA-B (p = 0.002). IRI correlated directly and significantly with the total hydrocortisone dose and the duration of treatment. Fasting glucose correlated with absolute sd-LDL. No obvious differences were seen between clinical forms or genotype groups.

CONCLUSIONS

Substitution therapy should be adapted particularly at young ages to prevent early atherogenesis and cardiovascular risk in later life.