La densidad mineral ósea está asociada con los polimorfismos de los genes de VDR e IGF-1 en pacientes con hiperplasia adrenal congénita tratados con glucocorticoides.

PICOTTO G., DÍAZ DE BARBOZA G., PÉREZ A., MARTÍN S., MIRAS M., MUÑOZ L., CARPENTIERI A., SOBRERO G., OCHETTI M., SILVANO L., SIGNORINO M., RUPÉREZ C., BERTOLOTTO P., PELLIZAS C., MONTESINOS M., TOLOSA DE TALAMONI N

Montevideo

Congreso; Reunión Anual Sociedad Latinoamericana de Endocrinologia Pediátrica; 2012

Sociedad Latinoamericana de Endocrinologia Pediátrica

Introduction: Patients with Congenital Adrenal Hyperplasia (CAH) with glucorticoid therapy may present bone metabolism alterations. Vitamin D receptor (VDR) and IGF-I gene polymorphisms are considered as genetic markers of bone mineral density (BMD). Objetives: To analyze VDR and IGF-I gene polimorfisms in CAH patients and the relationships with the bone markers. Methods: Sixty six CAH patients treated with glucocorticoids were classified in two groups according to the presence of an adequate (Acl) or inadequate (Icl) clinical and biochemical control. We evaluated BMD, bone markers (osteocalcin and β-crosslaps), VDR gene polymorphisms (Bsm I and Fok I sites) and IGF1, by PCR-RFLP. Statistical analysis: Chi, Wilcoxon or Mann-Whitney and Krustal Wallis tests. Results: Patients carrying FF genotypes showed the lowest z-score of spine BMD. The analysis of IGF-1 gene polymorphisms revealed that the frequency of allele 192 in the Icl group was lower vs controls. CAH patients with genotype 0/0 (absence of allele 192) presented higher values of β-crosslaps and lower BMDs. Conclusions: CAH patients lacking allele 192 have an altered bone turnover and inadequate response to therapy. In addition, patients with genotype FF have the lowest bone mass.