Background: Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant disorder characterized by the presence of endocrine and nonendocrine tumors. Until recently, more than 450 different germline mutations have been reported in MEN1 patients involving frameshift deletions, insertions, as well as nonsense mutations.
Aim: To report a novel mutation in MEN1 gene in a young female with persisting primary hyperparathyroidism.
Methods: A 28-year-old female was admitted to our Department with the suspicion of primary hyperparathyroidism. The patient has a medical history of partial thyroidectomy with removal of the two right parathyroid glands shown to be hyperplastic in histology. Biochemistry revealed calcium levels in the upper normal limit with inappropriate increased parathyroid hormone levels. Enlargement of the residual parathyroid glands as well as a tumor in the head of pancreas were identified. The presence of primary hyperparathyroidism and a pancreatic tumor despite the negative family history made the diagnosis of MEN1 syndrome plausible and the patient underwent genetic testing.
Results: DNA testing from peripheral lymphocytes revealed a deletion (1826delG) at codon 572 in exon 10 of MEN1 gene, resulting in early termination of the MEN1 transcript.
Conclusion: We report a novel germline mutation, i.e. a frameshift deletion of the MEN1 gene, in a MEN1 subject.
24 - 28 Apr 2010
European Society of Endocrinology