Long-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
Multiple 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.
Main Authors: | Fabbri,Helena Campos, Mello,Maricilda Palandi de, Soardi,Fernanda Caroline, Esquiaveto-Aun,Adriana Mangue, Oliveira,Daniel Minutti de, Denardi,Fernanda Canova, Moura-Neto,Arnaldo, Garmes,Heraldo Mendes, Baptista,Maria Tereza Matias, Matos,Patrícia Sabino de, Lemos-Marini,Sofia Helena Valente de, D'Souza-Li,Lilia Freire Rodrigues, Guerra-Júnior,Gil |
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Format: | Digital revista |
Language: | English |
Published: |
Sociedade Brasileira de Endocrinologia e Metabologia
2010
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Online Access: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302010000800016 |
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