July - September 2012, Volume 8, Issue 3

Zimmermann A

New Molecular and Metabolic Aspects in Romanian Patients with Classic 21-Hydroxylase Deficiency

Acta Endo (Buc) 2012, 8 (3): 471-478
doi: 10.4183/aeb.2012.471

21-hydroxylase deficiency is with 90% the most frequent cause of congenital adrenal hyperplasia and is due to an inborn enzymatic defect of adrenal steroidogenesis inherited in an autosomal recessive manner. Here we report on the mutational spectrum of Romanian patients with classic\r\n21-hydroxylase deficiency and describe differences to other surrounding or Latin countries. The overall genotype-phenotype correlation was 87.8%. A new mutation P94L has been identified in a subgroup of patients with 11-?-hydroxylase deficiency. Furthermore, we address the issues of early alterations in bone mineral density and metabolism as well as early discrete alterations in lipid and carbohydrate metabolism with enhancement of the atherogenic small dense LDL-subfraction and emerging insulin resistance. The relationship of these discrete changes to treatment variables such as the mean and cumulative hydrocortisone dose stress once more the importance of an optimal glucocorticoid treatment with the lowest effective individual doses, to preclude the achievement of a suboptimal peak bone mass as well as the early appearance of traits of the metabolic syndrome.

Keywords: classic 21-hydroxylase deficiency

Correspondence: Anca Zimmermann MD, PhD University of Mainz - Endocrinology and Metabolic Diseases, Langenbeckstr. 1 Mainz 55131, Germany, Email: zimmeran@uni-mainz.de