PMID- 18524795
OWN - NLM
STAT- MEDLINE
DCOM- 20081008
LR  - 20161018
IS  - 1479-683X (Electronic)
IS  - 0804-4643 (Linking)
VI  - 159
IP  - 3
DP  - 2008 Sep
TI  - Multiple endocrine neoplasia type 1 in Brazil: MEN1 founding mutation, clinical 
      features, and bone mineral density profile.
PG  - 259-74
LID - 10.1530/EJE-08-0153 [doi]
AB  - OBJECTIVE: Only few large families with multiple endocrine neoplasia type 1 
      (MEN1) have been documented. Here, we aimed to investigate the clinical features 
      of a seven-generation Brazilian pedigree, which included 715 at-risk family 
      members. DESIGN: Genealogical and geographic analysis was used to identify the 
      MEN1 pedigree. Clinical and genetic approach was applied to characterize the 
      phenotypic and genotypic features of the family members. RESULTS: Our genetic 
      data indicated that a founding mutation in the MEN1 gene has occurred in this 
      extended Brazilian family. Fifty family members were diagnosed with MEN1. Very 
      high frequencies of functioning and non-functioning MEN1-related tumors were 
      documented and the prevalence of prolactinoma (29.6%) was similar to that 
      previously described in prolactinoma-variant Burin (32%). In addition, bone 
      mineral density analysis revealed severe osteoporosis (T, -2.87+/-0.32) of 
      compact bone (distal radius) in hyperparathyroidism (HPT)/MEN1 patients, while 
      marked bone mineral loss in the lumbar spine (T, -1.95+/-0.39), with most 
      cancellous bone, and femoral neck (mixed composition; T, -1.48+/-0.27) were also 
      present. CONCLUSIONS: In this study, we described clinically and genetically the 
      fifth largest MEN1 family in the literature. Our data confirm previous findings 
      suggesting that prevalence of MEN1-related tumors in large families may differ 
      from reports combining cumulative data of small families. Furthermore, we were 
      able to evaluate the bone status in HPT/MEN1 cases, a subject that has been 
      incompletely approached in the literature. We discussed the bone loss pattern 
      found in our MEN1 patients comparing with that of patients with sporadic primary 
      HPT.
FAU - Lourenco, D M Jr
AU  - Lourenco DM Jr
AD  - Unidade de Endocrinologia Genetica, Laboratorio de Investigacao Medica (LIM 25), 
      Endocrinologia, Faculdade de Medicina da Universidade de Sao Paulo (FMUSP), 
      Cerqueira Cesar, Sao Paulo 01246-903, SP, Brasil.
FAU - Toledo, R A
AU  - Toledo RA
FAU - Mackowiak, I I
AU  - Mackowiak II
FAU - Coutinho, F L
AU  - Coutinho FL
FAU - Cavalcanti, M G
AU  - Cavalcanti MG
FAU - Correia-Deur, J E M
AU  - Correia-Deur JE
FAU - Montenegro, F
AU  - Montenegro F
FAU - Siqueira, S A C
AU  - Siqueira SA
FAU - Margarido, L C
AU  - Margarido LC
FAU - Machado, M C
AU  - Machado MC
FAU - Toledo, S P A
AU  - Toledo SP
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20080604
PL  - England
TA  - Eur J Endocrinol
JT  - European journal of endocrinology
JID - 9423848
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - *Bone Density/genetics
MH  - Brazil
MH  - DNA Mutational Analysis
MH  - Family
MH  - Female
MH  - *Founder Effect
MH  - Geography
MH  - Germ-Line Mutation/physiology
MH  - Haplotypes
MH  - Humans
MH  - Hyperthyroidism/complications/genetics
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 
      1/complications/diagnosis/*genetics/*physiopathology
MH  - Pedigree
MH  - Proto-Oncogene Proteins/*genetics
EDAT- 2008/06/06 09:00
MHDA- 2008/10/09 09:00
CRDT- 2008/06/06 09:00
PHST- 2008/06/06 09:00 [pubmed]
PHST- 2008/10/09 09:00 [medline]
PHST- 2008/06/06 09:00 [entrez]
AID - EJE-08-0153 [pii]
AID - 10.1530/EJE-08-0153 [doi]
PST - ppublish
SO  - Eur J Endocrinol. 2008 Sep;159(3):259-74. doi: 10.1530/EJE-08-0153. Epub 2008 Jun 
      4.