Novel multiple endocrine neoplasia type 1 variations in patients with sporadic primary hyperparathyroidism.

ABSTRACT:

Background and objectives

Primary hyperparathyroidism (PHPT) can occur either as a sporadic case or in association with syndromes such as multiple endocrine neoplasia. Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal-dominant disease resulting from mutations in MEN1 gene encoding a 621 amino acid long tumor suppressor protein "menin." We report here the results of MEN1 screening in 31 patients diagnosed with sporadic PHPT.

Materials and methods

Diagnosis of sporadic PHPT was made when blood urea and serum creatinine were normal, serum parathyroid hormone was high, and parathyroid enlargement could be localized on ultrasound and/or parathyroid scan. A total of 31 patients and 50 healthy volunteers were recruited for molecular analysis after taking informed conse

SUBMITTER: Birla S 

PROVIDER: S-EPMC4911830 | biostudies-literature | 2016 Jul-Aug

REPOSITORIES: biostudies-literature