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

MARTIN, SILVIA; MUÑOZ L; PEREZ, ADRIANA; SOBRERO G; PICCOTTO GABRIELA; OCHETTI MARIANA; CARPENTIERI AGATTA; SILVANO L; DÍAZ DE BARBOZA GABRIELA; SIGNORINO MALVINA; RUPEREZ CASILDA; BERTOLLOTTO PATRICIA; ULLA MARÍA ROSA; PELLIZAS CG; MONTESINOS, MM; TOLOSA DE TALAMONI; MIRAS MB

FREUND PUBLISHING HOUSE LTD

Lugar: Berlín; Año: 2014 vol. 27 p. 1161 - 1161

atients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency need glucocorticoid (GC) therapy, which alters bone mineral metabolism. We analyze clinical and biochemical parameters and 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 genotype different 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 of β -CrossLaps and a low total BMD. This study contributes to understanding of the association of genetic determinants of BMD with th