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Multiple endocrine neoplasia type 1 in Brazil: MEN1 founding mutation, clinical features and bone mineral density profile.

D Lourenco-Jr, Endocrinology, Unidade de Endocrinologia Genetica, LIM25, University of Sao Paulo, School of Medicine, Sao Paulo, Brazil
R Toledo, Endocrinology, Unidade de Endocrinologia Genetica, LIM25, University of Sao Paulo, School of Medicine, Sao Paulo , Brazil
I Mackowiak, Biology, University of Sao Paulo, Sao Paulo , Brazil
F Coutinho, Endocrinology, Unidade de Endocrinologia Genetica, LIM25, University of Sao Paulo, School of Medicine, Sao Paulo , Brazil
M Cavalcanti, Endocrinology, Unidade de Endocrinologia Genetica, LIM25, University of Sao Paulo, School of Medicine, Sao Paulo , Brazil
J Correia-Deur, Endocrinology, Unidade de Endocrinologia Genetica, LIM25, University of Sao Paulo, School of Medicine, Sao Paulo , Brazil
F Montenegro, Head and Neck Surgery, School of Medicine, University of Sao Paulo, Sao Paulo , Brazil
S Siqueira, Surgical Pathology, School of Medicine, University of Sao Paulo, Sao Paulo , Brazil
L Margarido, Dermatology, School of Medicine, University of Sao Paulo, Sao Paulo , Brazil
M Machado, Gastroenterology Surgery, School of Medicine, University of Sao Paulo, Sao Paulo , Brazil
S Toledo, Endocrinology, Unidade de Endocrinologia Genética, LIM25, University of Sao Paulo, School of Medicine, Sao Paulo , Brazil

Correspondence: Delmar Lourenco-Jr, Email: delmarmuniz{at}hotmail.com

Abstract

Objective: Only few large families with multiple endocrine neoplasia type 1 (MEN1) have been documented. 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 that 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.