Clinical and molecular studies related to bone metabolism in patients with congenital adrenal hyperplasia

MUÑOZ, LILIANA

JOURNAL OF PEDIATRIC ENDOCRINOLOGY

FREUND PUBLISHING HOUSE LTD

Año: 2014 vol. 0 p. 1161 - 1161

0334-018X

bstract: Patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency need glucocorticoid (GC) therapy, which alters bone mineral metabolism. We analyze clinical and biochemical parametersand different polymorphisms of candidate genes associated with bone mineral density (BMD) in CAH patients.The CAH patients treated with GC and healthy controls were studied. Anthropometric parameters, biochemical markers of bone turnover, and BMD were evaluated. Polymerase chain reaction technique was used to genotypedifferent candidate genes. The 192-192 genotype frequency (IGF-I) was lower in poorly controlled patients than that from controls. In CAH patients, FF genotype(vitamin D receptor, VDR) correlated with lower lumbar spine BMD and there was a significant association between the 0-0 genotype (IGF-I) and high values ofβ-CrossLaps and a low total BMD. This study contributes to understanding of the association of genetic determinants of BMD with the variable response