Clinical and molecular spectrum of patients with 17 beta-hydroxysteroid dehydrogenase type 3 (17-beta-HSD3) deficiency

dc.creatorCastro, CCTD
dc.creatorGuaragna, G
dc.creatorCalais, FL
dc.creatorCoeli, FB
dc.creatorLeal, IRL
dc.creatorCavalcante, EF
dc.creatorMonlleo, IL
dc.creatorPereira, SRF
dc.creatorSilva, RBDE
dc.creatorGabiatti, JRE
dc.creatorMarques-de-Faria, AP
dc.creatorMaciel-Guerra, AT
dc.creatorDe Mello, MP
dc.creatorGuerra, G
dc.date2012
dc.dateNOV
dc.date2014-07-30T13:59:45Z
dc.date2015-11-26T18:05:15Z
dc.date2014-07-30T13:59:45Z
dc.date2015-11-26T18:05:15Z
dc.date.accessioned2018-03-29T00:47:33Z
dc.date.available2018-03-29T00:47:33Z
dc.identifierArquivos Brasileiros De Endocrinologia E Metabologia. Sbem-soc Brasil Endocrinologia & Metabologia, v. 56, n. 8, n. 533, n. 539, 2012.
dc.identifier0004-2730
dc.identifier1677-9487
dc.identifierWOS:000313279100012
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/56026
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/56026
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1293089
dc.descriptionThe 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):533-9
dc.description56
dc.description8
dc.descriptionSI
dc.description533
dc.description539
dc.languageen
dc.publisherSbem-soc Brasil Endocrinologia & Metabologia
dc.publisherRio De Janeiro, Rj
dc.publisherBrasil
dc.relationArquivos Brasileiros De Endocrinologia E Metabologia
dc.relationArq. Bras. Endocrinol. Metabol.
dc.rightsaberto
dc.sourceWeb of Science
dc.subjectBeta-hydroxysteroid Dehydrogenases
dc.subject17-ketosteroid Reductase Defect
dc.subjectMale Pseudohermaphroditism
dc.subjectPhenotypic Variability
dc.subjectHsd17b3 Gene
dc.subjectIn-vivo
dc.subjectMutations
dc.subjectGynecomastia
dc.subjectPolymorphism
dc.subjectDiagnosis
dc.titleClinical and molecular spectrum of patients with 17 beta-hydroxysteroid dehydrogenase type 3 (17-beta-HSD3) deficiency
dc.typeArtículos de revistas


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