title: [Mutation screening in Angiotensin II receptors, AGTR1 and AGTR2, and evaluation of AGTR1 polymorphisms C573T and A1166C in patients with premature adrenarche].
abstract: Precocious pubarche is the appearance of pubic hair before the age of 8 years in girls and 9 years in boys. The most frequent etiology is idiopathic precocious adrenarche, suggested, after long-term follow-up, to be associated with metabolic syndrome. One of the factors involved in the genesis of precocious adrenarche is Angiotensin II (Ang II), which promotes cell proliferation and steroidogenesis through type 1 (AT1) and type 2 (AT2) receptors. In order to study Ang II receptors mutations, 50 children with idiopathic precocious adrenarche were evaluated and compared to a control group of normal individuals. Mutations were not detected in the AGTR1 and AGTR2 genes; however, two polymorphisms were identified in the AGTR1 gene: the C573T (exon 5) and the A1166C (3' untranslated region). The polymorphic allele T573 was found in 35% of the patients and 38% of controls. The polymorphic allele C1166 was present in 24% of the patients and 26% of controls. There was no statistical difference between groups. There was also no correlation between the polymorphisms and clinical and laboratory findings, as well as their family history of metabolic syndrome.
authors.affiliation: Unidade de Endocrinologia Pediátrica, Departamento de Pediatria e Puericultura, Santa Casa de Misericórdia de São Paulo.
authors.forename: Mônica S F
authors.initials: MS
authors.lastname: Moura
authors.forename: Mônica B
authors.initials: MB
authors.lastname: de Melo
authors.forename: Carlos Alberto
authors.initials: CA
authors.lastname: Longui
authors.forename: Mylene N
authors.initials: MN
authors.lastname: Rocha
authors.forename: Osmar
authors.initials: O
authors.lastname: Monte
mesh_terms: D050499:Adrenarche / Q000235:genetics*; D000704:Analysis of Variance; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D005787:Gene Frequency / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D024821:Metabolic Syndrome / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics*; D011629:Puberty, Precocious / Q000235:genetics*; D044139:Receptor, Angiotensin, Type 2 / Q000235:genetics*; D018709:Statistics, Nonparametric
chemical_list: D044139:Receptor, Angiotensin, Type 2