Clinical, molecular and bone metabolism studies in patients with Congenital Adrenal Hyperplasia

Martin, Silvia; Muñoz, Liliana; Pérez, Adriana; Sobrero, Gabriela; Picotto, Gabriela; Ochetti, Mariana; Carpentieri, Ágata Rita; Silvano, Liliana; Barboza, Gabriela Díaz de; Signorino, Malvina; Rupérez, C.; Bertolotto, Patricia; Ulla, María Rosa; Talamoni, Nori Tolosa de; Miras, Mirta

doi:10.1016/j.bone.2011.03.724

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“…Published reports on adult height reached in CAH patients are highly variable and are influenced by different factors (19) . The data on adult height SDS of our patients are comparable with those reported in the literature (20) . The possible causes of short height in a patient subgroup have led to the analysis of influences of the GH-IGF-I axis.…”

Section: Discussionsupporting

confidence: 91%

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

Martin

Muñoz

Pérez

et al. 2014

Journal of Pediatric Endocrinology and Metabolism

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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 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 the variable response to GC treatment in CAH patients and demonstrates the usefulness of these genetic polymorphisms.

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Section: Discussionsupporting

confidence: 91%