Autor: |
Fabbri HC; Center for Molecular Biology and Genetic Engineering, Universidade Estadual de Campinas, SP, Brazil., Mello MP, Soardi FC, Esquiaveto-Aun AM, Oliveira DM, Denardi FC, Moura-Neto A, Garmes HM, Baptista MT, Matos PS, Lemos-Marini SH, D'Souza-Li LF, Guerra-Júnior G |
Jazyk: |
angličtina |
Zdroj: |
Arquivos brasileiros de endocrinologia e metabologia [Arq Bras Endocrinol Metabol] 2010 Nov; Vol. 54 (8), pp. 754-60. |
DOI: |
10.1590/s0004-27302010000800016 |
Abstrakt: |
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. |
Databáze: |
MEDLINE |
Externí odkaz: |
|