ECE2010 Poster Presentations Adrenal (66 abstracts)
Alterations in lipid and carbohydrate metabolism in patients with classic CAH due to 21-hydroxylase deficiency
Anca Zimmermann 1 , Paula Grigorescu Sido 1, , Camelia Al Khzouz 1, , Karen Patberg 1 , Simona Bucerzan 1, , Egbert Schulze 1, , Tim Zimmermann 1 & Matthias M Weber 1
1Johannes Gutenberg University of Mainz, Mainz, Germany; 2Iuliu Hatieganu University of Medicine and Pharmacy, Cluj, Romania; 3Laboratory for Molecular Genetics, Heidelberg, Germany.
Background: Classic 21-hydroxylase deficiency (21HD) presents some traits of the metabolic syndrome. We aimed to characterize discrete alterations of lipid and carbohydrate metabolism in children and young adults with classic 21HD, which could predict early atherogenesis.
Design: Cross-sectional comparative.
Patients and methods: Of 27 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 the relative (%) and absolute (mg/dl) small-dense LDL subfractions (sd-LDL) were measured in patients and controls. Oral glucose tolerance tests were performed in both groups; insulin resistance indexes were calculated. All patients and controls and where underage their parents or legal guardians gave their written informed consent for participation in this observational study.
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-CL was lower in patients than controls (P=0.032). Fasting glucose and insulin were significantly higher in patients than controls. The same differences were noticed for HOMA-IR (2.42±1.48 vs 1.24±0.68; P=0.001), IRI (2.90±0.29 vs 2.63±0.26; P=0.001), HOMA-B (42.1±23.41 vs 25.06±13.43; P=0.002) with inverse significant relations regarding glucose/insulin ratio. 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: Children and young adults with 21HD present with increased atherogenic sd-LDL subfractions, decreased HDL-CL concentrations and insulin resistance. Substitution therapy should be adapted particularly at this life period to prevent early atherogenesis and cardiovascular risk in later life.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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