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dc.contributor.CRUESPUniversidade Estadual de Campinaspt_BR
dc.typeArtigo de periódicopt_BR
dc.titleSix new cases confirm the clinical molecular profile of complete combined 17 alpha-hydroxylase/17,20-lyase deficiency in Brazilpt_BR
dc.contributor.authorBelgini, DRBpt_BR
dc.contributor.authorde Mello, MPpt_BR
dc.contributor.authorBaptista, MTMpt_BR
dc.contributor.authorde Oliveira, DMpt_BR
dc.contributor.authorDenardi, FCpt_BR
dc.contributor.authorGarmes, HMpt_BR
dc.contributor.authorGrassiotto, ODpt_BR
dc.contributor.authorPinto, CLBpt_BR
dc.contributor.authorMarques-de-Faria, APpt_BR
dc.contributor.authorMaciel-Guerra, ATpt_BR
dc.contributor.authorGuerra, Gpt_BR
unicamp.authorGuerra-Junior, Gil Univ Estadual Campinas, Dept Pediat, FCM, Interdisciplinary Grp Study Sex Determinat & Diff, BR-13083887 Campinas, SP, Brazilpt_BR
unicamp.authorBarbosa Belgini, Daiane Rodrigues de Mello, Maricilda Palandi Univ Estadual Campinas Unicamp, Ctr Mol Biol & Genet Engn CBMEG, Campinas, SP, Brazilpt_BR
unicamp.authorMatias Baptista, Maria Tereza de Oliveira, Daniel Minutti Denardi, Fernanda Canova Garmes, Heraldo Mendes Univ Estadual Campinas, Dept Clin Med, FCM, BR-13083887 Campinas, SP, Brazilpt_BR
unicamp.authorGrassiotto, Oswaldo da Rocha Benetti Pinto, Cristina Laguna Univ Estadual Campinas, Dept Tocogynecol, FCM, BR-13083887 Campinas, SP, Brazilpt_BR
unicamp.authorMarques-de-Faria, Antonia Paula Maciel-Guerra, Andrea Trevas Univ Estadual Campinas, Interdisciplinary Grp Study Sex Determinat & Diff, Dept Med Genet, FCM, BR-13083887 Campinas, SP, Brazilpt_BR
dc.subject.wos17,20-lyase Deficiencypt_BR
dc.subject.wosP450c17 Deficiencypt_BR
dc.subject.wosCyp17a1 Genept_BR
dc.description.abstractIn 2004, Costa-Santos and cols. reported 24 patients from 19 Brazilian families with 17 alpha-hydroxylase deficiency and showed that p.W406R and p.R362C corresponded to 50% and 32% of CYP17A1 mutant alleles, respectively. The present report describes clinical and molecular data of six patients from three inbred Brazilian families with 17 alpha-hydroxlyse deficiency. All patients had hypogonadism, amenorrhea and hypertension at diagnosis. Two sisters were found to be 46,XY with both gonads palpable in the inguinal region. All patients presented hypergonadotrophic hypogonadism, with high levels of ACTH (> 104 ng/mL), suppressed plasmatic renin activity, low levels of potassium (< 2.8 mEq/L) and elevated progesterone levels (> 4.4 ng/mL). Three of them, including two sisters, were homozygous for p.W406R mutation and the other three (two sisters and one cousin) were homozygous for p.R362C. The finding of p.W406R and p.R362C in the CYP17A1 gene here reported in additional families, confirms them as the most frequent mutations causing complete combined 17 alpha-hydroxylase/17,20-lyase deficiency in Brazilian patients. Arq Bras Endocrinol Metab. 2010;54(8):711-6pt
dc.relation.ispartofArquivos Brasileiros De Endocrinologia E Metabologiapt_BR
dc.relation.ispartofabbreviationArq. Bras. Endocrinol. Metabol.pt_BR
dc.publisher.cityRio De Janeiro, Rjpt_BR
dc.publisherSbem-soc Brasil Endocrinologia & Metabologiapt_BR
dc.identifier.citationArquivos Brasileiros De Endocrinologia E Metabologia. Sbem-soc Brasil Endocrinologia & Metabologia, v. 54, n. 8, n. 711, n. 716, 2010.pt_BR
dc.sourceWeb of Sciencept_BR
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