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dc.contributor.CRUESPUniversidade Estadual de Campinaspt_BR
dc.typeArtigo de periódicopt_BR
dc.titleClinical and molecular spectrum of patients with 17 beta-hydroxysteroid dehydrogenase type 3 (17-beta-HSD3) deficiencypt_BR
dc.contributor.authorCastro, CCTDpt_BR
dc.contributor.authorGuaragna, Gpt_BR
dc.contributor.authorCalais, FLpt_BR
dc.contributor.authorCoeli, FBpt_BR
dc.contributor.authorLeal, IRLpt_BR
dc.contributor.authorCavalcante, EFpt_BR
dc.contributor.authorMonlleo, ILpt_BR
dc.contributor.authorPereira, SRFpt_BR
dc.contributor.authorSilva, RBDEpt_BR
dc.contributor.authorGabiatti, JREpt_BR
dc.contributor.authorMarques-de-Faria, APpt_BR
dc.contributor.authorMaciel-Guerra, ATpt_BR
dc.contributor.authorDe Mello, MPpt_BR
dc.contributor.authorGuerra, Gpt_BR
unicamp.authorTelles de Sousa Castro, Carla Cristina Guaragna-Filho, Guilherme Guerra-Junior, Gil Univ Estadual Campinas, UNICAMP, Dept Pediat, Unidade Endocrinol Pediat,FCM, BR-13083100 Campinas, SP, Brazilpt_BR
unicamp.authorCalais, Flavia Leme Coeli, Fernanda Borchers De Mello, Maricilda Palandi Univ Estadual Campinas, CBMEG, Lab Genet Mol Humana, Campinas, SP, Brazilpt_BR
unicamp.authorLima Leal, Ianik Rafaela Ferreira Pereira, Silma Regina Univ Fed Maranhao UFMA, Dept Biol, Sao Luis, MA, Brazilpt_BR
unicamp.authorCavalcante-Junior, Erisvaldo Ferreira Monlleo, Isabella Lopes Univ Fed Alagoas UFAL, Ctr Ciencias Saude, Maceio, AL, Brazilpt_BR
unicamp.authorde Paiva e Silva, Roberto Benedito Univ Estadual Campinas, FCM, Dept Desenvolvimento Humano & Reabilitacao, Campinas, SP, Brazilpt_BR
unicamp.authorde Paiva e Silva, Roberto Benedito Marques-de-Faria, Antonia Paula Maciel-Guerra, Andrea Trevas Guerra-Junior, Gil Univ Estadual Campinas, FCM, GIEDDS, Campinas, SP, Brazilpt_BR
unicamp.authorErbolato Gabiatti, Jose Roberto Univ Estadual Campinas, FCM, Dept Tocoginecol, Campinas, SP, Brazilpt_BR
unicamp.authorMarques-de-Faria, Antonia Paula Maciel-Guerra, Andrea Trevas Univ Estadual Campinas, FCM, Dept Med Genet, Campinas, SP, Brazilpt_BR
dc.subject.wosBeta-hydroxysteroid Dehydrogenasespt_BR
dc.subject.wos17-ketosteroid Reductase Defectpt_BR
dc.subject.wosMale Pseudohermaphroditismpt_BR
dc.subject.wosPhenotypic Variabilitypt_BR
dc.subject.wosHsd17b3 Genept_BR
dc.description.abstractThe enzyme 17 beta-hydroxysteroid dehydrogenase type 3 (17-beta-HSD3) catalyzes the conversion of androstenedione to testosterone in the testes, and its deficiency is a rare disorder of sex development in 46, XY individuals. It can lead to a wide range of phenotypic features, with variable hormonal profiles. We report four patients with the 46, XY karyotype and 17-beta-HSD3 deficiency, showing different degrees of genital ambiguity, increased androstenedione and decreased testosterone levels, and testosterone to androstenedione ratio <0.8. In three of the patients, diagnosis was only determined due to the presence of signs of virilization at puberty. All patients had been raised as females, and female gender identity was maintained in all of them. Compound heterozygosis for c.277+2T>G novel mutation, and c.277+4A>T mutation, both located within the intron 3 splice donor site of the HSD17B3 gene, were identified in case 3. In addition, homozygosis for the missense p.Ala203Val, p.Gly289Ser, p.Arg80Gln mutations were found upon HSD17B3 gene sequencing in cases 1, 2, and 4, respectively. Arq Bras Endocrinol Metab. 2012;56(8):533-9pt
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. 56, n. 8, n. 533, n. 539, 2012.pt_BR
dc.sourceWeb of Sciencept_BR
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