PMID- 21340165
OWN - NLM
STAT- MEDLINE
DCOM- 20110808
LR  - 20190918
IS  - 1677-9487 (Electronic)
IS  - 0004-2730 (Linking)
VI  - 54
IP  - 8
DP  - 2010 Nov
TI  - 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.
PG  - 754-60
LID - S0004-27302010000800016 [pii]
AB  - 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.
FAU - Fabbri, Helena Campos
AU  - Fabbri HC
AD  - Center for Molecular Biology and Genetic Engineering, Universidade Estadual de 
      Campinas, SP, Brazil.
FAU - Mello, Maricilda Palandi de
AU  - Mello MP
FAU - Soardi, Fernanda Caroline
AU  - Soardi FC
FAU - Esquiaveto-Aun, Adriana Mangue
AU  - Esquiaveto-Aun AM
FAU - Oliveira, Daniel Minutti de
AU  - Oliveira DM
FAU - Denardi, Fernanda Canova
AU  - Denardi FC
FAU - Moura-Neto, Arnaldo
AU  - Moura-Neto A
FAU - Garmes, Heraldo Mendes
AU  - Garmes HM
FAU - Baptista, Maria Tereza Matias
AU  - Baptista MT
FAU - Matos, Patricia Sabino de
AU  - Matos PS
FAU - Lemos-Marini, Sofia Helena Valente de
AU  - Lemos-Marini SH
FAU - D'Souza-Li, Lilia Freire Rodrigues
AU  - D'Souza-Li LF
FAU - Guerra-Junior, Gil
AU  - Guerra-Junior G
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Brazil
TA  - Arq Bras Endocrinol Metabol
JT  - Arquivos brasileiros de endocrinologia e metabologia
JID - 0403437
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Child
MH  - Humans
MH  - Insulinoma/*genetics
MH  - Introns/genetics
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Mutation
MH  - Pancreatic Neoplasms/*genetics
MH  - Pedigree
MH  - Proto-Oncogene Proteins/*genetics
EDAT- 2011/02/23 06:00
MHDA- 2011/08/09 06:00
CRDT- 2011/02/23 06:00
PHST- 2010/07/29 00:00 [received]
PHST- 2010/11/18 00:00 [accepted]
PHST- 2011/02/23 06:00 [entrez]
PHST- 2011/02/23 06:00 [pubmed]
PHST- 2011/08/09 06:00 [medline]
AID - S0004-27302010000800016 [pii]
AID - 10.1590/s0004-27302010000800016 [doi]
PST - ppublish
SO  - Arq Bras Endocrinol Metabol. 2010 Nov;54(8):754-60. doi: 
      10.1590/s0004-27302010000800016.