title: Clinical and molecular studies related to bone metabolism in patients with congenital adrenal hyperplasia.
abstract: 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.
authors.forename: Silvia
authors.initials: S
authors.lastname: Martín
authors.forename: Liliana
authors.initials: L
authors.lastname: Muñoz
authors.forename: Adriana
authors.initials: A
authors.lastname: Pérez
authors.forename: Gabriela
authors.initials: G
authors.lastname: Sobrero
authors.forename: Gabriela
authors.initials: G
authors.lastname: Picotto
authors.forename: Mariana
authors.initials: M
authors.lastname: Ochetti
authors.forename: Agata
authors.initials: A
authors.lastname: Carpentieri
authors.forename: Liliana
authors.initials: L
authors.lastname: Silvano
authors.forename: Gabriela Díaz
authors.initials: GD
authors.lastname: de Barboza
authors.forename: Malvina
authors.initials: M
authors.lastname: Signorino
authors.forename: Casilda
authors.initials: C
authors.lastname: Rupérez
authors.forename: Patricia
authors.initials: P
authors.lastname: Bertolotto
authors.forename: María Rosa
authors.initials: MR
authors.lastname: Ulla
authors.forename: Claudia
authors.initials: C
authors.lastname: Pellizas
authors.forename: María
authors.initials: M
authors.lastname: Montesinos
authors.forename: Nori
authors.initials: N
authors.lastname: Tolosa de Talamoni
authors.forename: Mirta
authors.initials: M
authors.lastname: Miras
mesh_terms: D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism* / Q000473:pathology*; D000328:Adult; D015519:Bone Density; D016022:Case-Control Studies; D005260:Female; D005500:Follow-Up Studies; D005938:Glucocorticoids / Q000627:therapeutic use; D020249:Hormone Replacement Therapy; D006801:Humans; D007334:Insulin-Like Growth Factor I / Q000235:genetics*; D008297:Male; D011110:Polymorphism, Genetic / Q000235:genetics*; D011379:Prognosis; D018167:Receptors, Calcitriol / Q000235:genetics*; D013255:Steroid 21-Hydroxylase / Q000378:metabolism; D055815:Young Adult
chemical_list: D005938:Glucocorticoids; D018167:Receptors, Calcitriol; C579457:VDR protein, human; D007334:Insulin-Like Growth Factor I; D013255:Steroid 21-Hydroxylase