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dc.contributor.CRUESPUNIVERSIDADE ESTADUAL DE CAMPINASpt_BR
dc.identifier.isbn11pt_BR
dc.contributor.authorunicampGuaragna Filho, Guilherme-
dc.contributor.authorunicampGuerra Júnior, Gil-
dc.typeArtigopt_BR
dc.titleThe long-term outcome of boys with partial androgen insensitivity syndrome and a mutation in the androgen receptor genept_BR
dc.contributor.authorLucas-Herald, A.-
dc.contributor.authorBertelloni, S.-
dc.contributor.authorJuul, A.-
dc.contributor.authorBryce, J.-
dc.contributor.authorJiang, J.-
dc.contributor.authorRodie, M.-
dc.contributor.authorSinnott, R.-
dc.contributor.authorBoroujerdi, M.-
dc.contributor.authorJohansen, M. Lindhardt-
dc.contributor.authorHiort, O.-
dc.contributor.authorHolterhus, P. M.-
dc.contributor.authorCools, M.-
dc.contributor.authorGuaragna-Filho, G.-
dc.contributor.authorGuerra-Junior, G.-
dc.contributor.authorWeintrob, N.-
dc.contributor.authorHannema, S.-
dc.contributor.authorDrop, S.-
dc.contributor.authorGuran, T.-
dc.contributor.authorDarendeliler, F.-
dc.contributor.authorNordenstrom, A.-
dc.contributor.authorHughes, I. A.-
dc.contributor.authorAcerini, C.-
dc.contributor.authorTadokoro-Cuccaro, R.-
dc.contributor.authorAhmed, S. F.-
dc.subjectSíndrome de resistência a andrógenospt_BR
dc.subject.otherlanguageAndrogen-insensitivity syndromept_BR
dc.description.abstractBackground: In boys with suspected partial androgen insensitivity syndrome (PAIS), systematic evidence that supports the long-term prognostic value of identifying a mutation in the androgen receptor gene (AR) is lacking. Objective: To assess the clinical characteristics and long-term outcomes in young men with suspected PAIS in relation to the results of AR analysis. Methods: Through the International Disorders of Sex Development Registry, clinical information was gathered on young men suspected of having PAIS (n = 52) who presented before the age of 16 years and had genetic analysis of AR. Results: The median ages at presentation and at the time of the study were 1 month (range, 1 day to 16 years) and 22 years (range, 16 to 52 years), respectively. Of the cohort, 29 men (56%) had 20 different AR mutations reported. At diagnosis, the median external masculinization scores were 7 and 6 in cases with and without AR mutation, respectively (P =.9), and median current external masculinization scores were 9 and 10, respectively (P =.28). Thirty-five men (67%) required at least one surgical procedure, and those with a mutation were more likely to require multiple surgeries for hypospadias (P =.004). All cases with an AR mutation had gynecomastia, compared to 9% of those without an AR mutation. Of the six men who had a mastectomy, five (83%) had an AR mutation. Conclusions: Boys with genetically confirmed PAIS are likely to have a poorer clinical outcome than those with XY DSD, with normal T synthesis, and without an identifiable AR mutation. Routine genetic analysis of AR to confirm PAIS informs long-term prognosis and managementpt_BR
dc.relation.ispartofJournal of clinical endocrinology and metabolismpt_BR
dc.relation.ispartofabbreviationJ. clin. endocrinol. metab.pt_BR
dc.publisher.cityCary, NCpt_BR
dc.publisher.countryEstados Unidospt_BR
dc.publisherOxford University Presspt_BR
dc.date.issued2016-
dc.date.monthofcirculationNov.pt_BR
dc.language.isoengpt_BR
dc.description.firstpage3959pt_BR
dc.description.lastpage3967pt_BR
dc.rightsFechadopt_BR
dc.sourceWOSpt_BR
dc.identifier.issn0021-972Xpt_BR
dc.identifier.eissn1945-7197101pt_BR
dc.identifier.doi10.1210/jc.2016-1372pt_BR
dc.identifier.urlhttps://academic.oup.com/jcem/article/101/11/3959/2764925pt_BR
dc.description.sponsorshipCOORDENAÇÃO DE APERFEIÇOAMENTO DE PESSOAL DE NÍVEL SUPERIOR - CAPESpt_BR
dc.description.sponsordocumentnumberBEX 3547-15-9pt_BR
dc.date.available2021-02-20T17:44:10Z-
dc.date.accessioned2021-02-20T17:44:10Z-
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dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/356225-
dc.contributor.departmentsem informaçãopt_BR
dc.contributor.departmentDepartamento de Pediatriapt_BR
dc.contributor.unidadeFaculdade de Ciências Médicaspt_BR
dc.identifier.source000390948600010pt_BR
dc.creator.orcid0000-0002-7764-1426pt_BR
dc.creator.orcid0000-0002-2991-7678pt_BR
dc.type.formArtigo originalpt_BR
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