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.


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


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.
Zimmermann
Anca
A
1st Medical Clinic, Department of Endocrinology and Metabolic Diseases, Johannes Gutenberg University of Mainz, Mainz, Germany. zimmeran@uni-mainz.de
Grigorescu-Sido
Paula
P
AlKhzouz
Camelia
C
Patberg
Karen
K
Bucerzan
Simona
S
Schulze
Egbert
E
Zimmermann
Tim
T
Rossmann
Heidi
H
Geiss
Hans-Christian
HC
Lackner
Karl J
KJ
Weber
Matthias M
MM
D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000201:enzymology / Q000378:metabolism*; D000328:Adult; D001786:Blood Glucose / Q000032:analysis / Q000378:metabolism; D002096:C-Peptide / Q000032:analysis / Q000378:metabolism; D050260:Carbohydrate Metabolism / Q000502:physiology*; D002648:Child; D002675:Child, Preschool; D008076:Cholesterol, HDL / Q000097:blood / Q000378:metabolism; D008078:Cholesterol, LDL / Q000097:blood / Q000378:metabolism; D003430:Cross-Sectional Studies; D005260:Female; D005951:Glucose Tolerance Test; D006801:Humans; D007328:Insulin / Q000097:blood / Q000378:metabolism; D007333:Insulin Resistance / Q000502:physiology; D050356:Lipid Metabolism / Q000502:physiology*; D008297:Male; D018709:Statistics, Nonparametric; D013255:Steroid 21-Hydroxylase / Q000378:metabolism*; D014280:Triglycerides / Q000097:blood / Q000378:metabolism; D055815:Young Adult
D001786:Blood Glucose; D002096:C-Peptide; D008076:Cholesterol, HDL; D008078:Cholesterol, LDL; D007328:Insulin; D014280:Triglycerides; D013255:Steroid 21-Hydroxylase