A novel missense mutation of the MEN1 gene in a patient with multiple endocrine neoplasia type 1 with glucagonoma and obesity

Abstract

A 35-year-old obese diabetic man presented with recurrent primary hyperparathyroidism during a threeyear outpatient follow-up. He was clinically diagnosed with multiple endocrine neoplasia type 1 (MEN1) due to the presence of a pituitary adenoma and multiple glucagonomas. The glucagonomas may have affected his glycemic control. However, he did not demonstrate weight loss, suggesting that the patient’s obesity could have obscured the early diagnosis of a glucagonoma. Genetic testing revealed a novel missense mutation at codon 561 in exon 10, resulting in an amino acid substitution from methionine to arginine (M561R) in the MEN1 gene. This mutation appeared to be responsible for the MEN1 pathogenicity.