ISSN 1470-3947 (print)
ISSN 1479-6848 (online)

Searchable abstracts of presentations at key conferences in endocrinology

Published by BioScientifica
Endocrine Abstracts (2010) 22 P2 
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Alterations in lipid and carbohydrate metabolism in patients with classic CAH due to 21-hydroxylase deficiency

Anca Zimmermann1, Paula Grigorescu Sido1,2, Camelia Al Khzouz1,2, Karen Patberg1, Simona Bucerzan1,2, Egbert Schulze1,3, Tim Zimmermann1 & Matthias M Weber1

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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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