Frasier Syndrome: Four New Cases With Unusual Presentations [síndrome De Frasier: Quatro Novos Casos Com Apresentação Atípica]

dc.creatorGuaragna M.S.
dc.creatorLutaif A.C.G.B.
dc.creatorBittencourt V.B.
dc.creatorPiveta C.S.C.
dc.creatorSoardi F.C.
dc.creatorCastro L.C.G.
dc.creatorBelangero V.M.S.
dc.creatorMaciel-Guerra A.T.
dc.creatorGuerra-Junior G.
dc.creatorde Mello M.P.
dc.date2012
dc.date2015-06-26T20:28:12Z
dc.date2015-11-26T14:24:09Z
dc.date2015-06-26T20:28:12Z
dc.date2015-11-26T14:24:09Z
dc.date.accessioned2018-03-28T21:26:15Z
dc.date.available2018-03-28T21:26:15Z
dc.identifier
dc.identifierArquivos Brasileiros De Endocrinologia E Metabologia. , v. 56, n. 8, p. 525 - 532, 2012.
dc.identifier42730
dc.identifier10.1590/S0004-27302012000800011
dc.identifierhttp://www.scopus.com/inward/record.url?eid=2-s2.0-84872287251&partnerID=40&md5=1efe1eee06ad58a50a8b4f085d72f293
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/96628
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/96628
dc.identifier2-s2.0-84872287251
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1245318
dc.descriptionFrasier syndrome (FS) is characterized by gonadal dysgenesis and nephropathy. It is caused by specific mutations in the Wilms' tumor suppressor gene (WT1) located in 11p23. Patients with the 46,XY karyotype present normal female genitalia with streak gonads, and have higher risk of gonadal tumor, mainly, gonadoblastoma. Therefore, elective bilateral gonadectomy is indicated. Nephropathy in FS consists in nephrotic syndrome (NS) with proteinuria that begins early in childhood and progressively increases with age, mainly due to nonspecific focal and segmental glomerular sclerosis (FSGS). Patients are generally unresponsive to steroid and immunosuppressive therapies, and will develop end-stage renal failure (ESRF) during the second or third decade of life. We report here four cases of FS diagnosis after identification of WT1 mutations. Case 1 was part of a large cohort of patients diagnosed with steroid-resistant nephrotic syndrome, in whom the screening for mutations within WT1 8-9 hotspot fragment identified the IVS9+5G>A mutation. Beside FS, this patient showed unusual characteristics, such as urinary malformation (horseshoe kidney), and bilateral dysgerminoma. Cases 2 and 3, also bearing the IVS9+5G>A mutation, and case 4, with IVS9+1G>A mutation, were studied due to FSGS and/or delayed puberty; additionally, patients 2 and 4 developed bilateral gonadal tumors. Since the great majority of FS patients have normal female external genitalia, sex reversal is not suspected before they present delayed puberty and/or primary amenorrhea. Therefore, molecular screening of WT1 gene is very important to confirm the FS diagnosis. © ABEM todos os direitos reservados.
dc.description56
dc.description8
dc.description525
dc.description532
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dc.languageen
dc.languagept
dc.publisher
dc.relationArquivos Brasileiros de Endocrinologia e Metabologia
dc.rightsaberto
dc.sourceScopus
dc.titleFrasier Syndrome: Four New Cases With Unusual Presentations [síndrome De Frasier: Quatro Novos Casos Com Apresentação Atípica]
dc.typeArtículos de revistas


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