Exp Clin Endocrinol Diabetes 2013; 121 - OP7_45
DOI: 10.1055/s-0033-1336654

Early metabolic alterations in patients with classic 21-hydroxylase deficiency: lipid and carbohydrate metabolism, adipokine profile, oxidative stress and subclinical inflammation

A Zimmermann 1, H Rossmann 2, C Al Khzouz 3, S Bucerzan 3, I Nascu 3, MM Weber 1, P Grigorescu-Sido 3
  • 1University of Mainz, I. Med. Clinic and Policlinic, Dept. of Endocrinology and Metabolic Diseases, Mainz, Germany
  • 2University of Mainz, Institute for Clinical Chemistry and Laboratory Medicine, Mainz, Germany
  • 3University of Medicine and Pharmacy Cluj, 1. Pediatric Clinic, Center for Genetic Diseases, Cluj-Napoca, Romania

Introduction: Patients with classic 21-hydroxylase deficiency present some traits of the metabolic syndrome. We aimed to investigate early potentially atherogenic alterations in parameters of lipid, carbohydrate, adipokine metabolism, oxidative stress and subclinical inflammation in relation to disease- and treatment-variables.

Patients, methods: 40 patients with classic 21-hydroxylase deficiency (M/F 26/14, age 14.1 ± 9.1 years). The diagnosis was confirmed by sequencing analysis in all patients. We measured routine lipid parameters and the small dense LDL subfractions (sdLDL), performed oral glucose tolerance tests, measured adipokines, parameters of oxidative stress and subclinical inflammation in comparison to a group of healthy controls, after written informed consent.

Results: Total cholesterol and LDL-cholesterol were comparable between patients and controls, whereas sd LDL (% and absolute values) were significantly higher in patients (p = 0.01 and 0.02, respectively). Triglycerides were higher in patients (96.2 ± 44.8 vs. 76.3 ± 16.0 mg/dl, p = 0.03). Fasting glucose, HOMA-IR and IRI were significantly higher in patients vs. controls. Leptin, adiponectin and resistin were comparable while chemerin was higher in patients (136.5 ± 40.7 vs. 111.0 ± 42.0 ng/ml, p = 0.008). Oxidized LDL was higher in patients (8.3 ± 5.7 vs. 4.4 ± 4.5 µg/ml, p = 0.04), whereas interleukine 6 (IL6), PAI-1 and hsCRP were lower (p for IL6 = 0.04). We did not find a relevant correlation to clinical form, genotype or cumulative hydrocortisone dose.

Conclusions: Young patients with classic 21-hydroxylase deficiency display some subclinical elements of early atherogenesis. The relative increases in the atherogenic sd-LDL subfractions, the triglyceride and chemerin concentrations seem to be related to an increased oxidative stress and not to increased subclinical inflammation.