dc.creatorFabbri H.C.
dc.creatorde Mello M.P.
dc.creatorSoardi F.C.
dc.creatorEsquiaveto-Aun A.M.
dc.creatorde Oliveira D.M.
dc.creatorDenardi F.C.
dc.creatorMoura-Neto A.
dc.creatorGarmes H.M.
dc.creatorBaptista M.T.M.
dc.creatorde Matos P.S.
dc.creatorde Lemos-Marini S.H.V.
dc.creatorD'Souza-Li L.F.R.
dc.creatorGuerra-Junior G.
dc.date2010
dc.date2015-06-26T12:34:20Z
dc.date2015-11-26T15:24:49Z
dc.date2015-06-26T12:34:20Z
dc.date2015-11-26T15:24:49Z
dc.date.accessioned2018-03-28T22:33:42Z
dc.date.available2018-03-28T22:33:42Z
dc.identifier
dc.identifierArquivos Brasileiros De Endocrinologia E Metabologia. , v. 54, n. 8, p. 754 - 760, 2010.
dc.identifier42730
dc.identifier10.1590/S0004-27302010000800016
dc.identifierhttp://www.scopus.com/inward/record.url?eid=2-s2.0-79951991143&partnerID=40&md5=3b774d517bfab60685ca73d36dff13b0
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/90799
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/90799
dc.identifier2-s2.0-79951991143
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1260779
dc.descriptionMultiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant hereditary cancer syndrome characterized mostly by parathyroid, enteropancreatic, and anterior pituitary tumors. We present a case of an 8-year-old boy referred because of hypoglycemic attacks. His diagnosis was pancreatic insulinoma. Paternal grandmother died due to repeated gastroduodenal ulcerations and a paternal aunt presented similar manifestations. At a first evaluation, the father presented only gastric ulceration but subsequently developed hyperparathyroidism and lung carcinoid tumor. During almost 15 years of follow-up, three brothers and the index case presented hyperparathyroidism and hyperprolactinemia. Molecular study showed a G to A substitution in intron 4, at nine nucleotides upstream of the splicing acceptor site, causing a splicing mutation. All affected members of the family have the same mutation. Paternal grandmother and aunt were not studied and the mother does not carry any mutation. MEN1 is a rare condition that requires permanent medical assistance. Early clinical and genetic identification of affected individuals is essential for their own surveillance and also for genetic counseling. © ABE&M todos os direitos reservados.
dc.description54
dc.description8
dc.description754
dc.description760
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dc.languagept
dc.publisher
dc.relationArquivos Brasileiros de Endocrinologia e Metabologia
dc.rightsaberto
dc.sourceScopus
dc.titleLong-term Follow-up Of An 8-year-old Boy With Insulinoma As The First Manifestation Of A Familial Form Of Multiple Endocrine Neoplasia Type 1 [seguimento De Longo Prazo Em Um Menino De 8 Anos De Idade Com Insulinoma Como Primeira Manifestação De Neoplasia Endócrina Múltipla Tipo 1]
dc.typeArtículos de revistas


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