Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2012) 29 P71

ICEECE2012 Poster Presentations Adrenal cortex (113 abstracts)

Enhanced small dense LDL-subfractions, triglycerides and chemerin as early metabolic alterations in young patients with classic CAH due to 21-hydroxylase deficiency

A. Zimmermann 1 , P. Grigorescu-Sido 2 , H. Rossmann 1 , C Al Khzouz 2 , S. Bucerzan 2 , I. Nascu 2 , L. Bergholz 1 & M. Weber 1


1Johannes Gutenberg University of Mainz, Mainz, Germany; 2Iuliu Hatieganu University of Cluj, Cluj-Napoca, Romania.


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

Aim: To investigate early metabolic alterations in lipid and adipokine profile together with markers of subclinical inflammation in children and young adults with classic 21HD, which could predict early atherogenesis.

Patients und Methods: Thirty nine patients with classic 21HD (4–30 years); 39 age-, sex- and BMI-matched healthy controls. Clinical parameters, hormonal status and genotype were assessed in patients. Total-cholesterin (CL), LDL-CL, triglycerides (TG), HDL-CL were determined in patients/controls. The relative (%) and absolute (mg/dl) small-dense LDL subfractions (sd-LDL) were measured by density gradient ultracentrifugation. Adipokines (leptin, adiponectin, chemerin) and markers of subclinical inflammation (IL-6, PAI-1) were measured by ELISA.

Results: sd-LDL(%) was significantly higher in patients than controls (P=0.003). The same applies for absolute sd-LDL (mg/dl) (44.5+/−10.4 vs 38.3+/−7.5, P=0.033). TGs were higher in patients (96.1+/−44.7 vs 76.8+/−32.5 mg/dl, P=0,031). No significant difference was found in CL, LDL-CL, HDL-CL, leptin, adiponectin, IL-6 and PAI-1. However, chemerin was significantly higher in patients than controls (136.9+/−40.2 vs 111.2+/−41.9 ng/ml, P=0.007).

No obvious differences in sd-LDL or chemerin were seen between clinical forms, genotype groups (built according to the predicted residual enzymatic activity of 21-hydroxylase) or the degree of hormonal control, nor were direct correlations observed between the altered metabolic parameters and the total hydrocortisone dose or the duration of treatment.

Conclusion: Children and young adults with 21-hydroxylase deficiency show significantly higher sd-LDL-subfractions, TG and chemerin concentrations compared to age- and sex-matched healthy controls. As we could earlier show, they also exhibit a trend towards insulin resistance with higher IRI values, correlating with the total hydrocortisone dose and the duration of treatment. These alterations represent a risk constellation for early endothelial dysfunction, with potentially increased cardiovascular risk in later life. Supraphysiological hydrocortisone doses should be consequently avoided.

Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.

Funding: This work was supported, however funding details unavailable.

Volume 29

15th International & 14th European Congress of Endocrinology

European Society of Endocrinology 

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