Open AccessNovel multiple endocrine neoplasia type 1 variations in patients with sporadic primary hyperparathyroidism
Author(s) -
Shweta Birla,
Ekta Malik,
Viveka P Jyotsna,
Aruna Sharma
Publication year - 2016
Publication title -
indian journal of endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.456
H-Index - 28
eISSN - 2230-9500
pISSN - 2230-8210
DOI - 10.4103/2230-8210.183467
Subject(s) - primary hyperparathyroidism , medicine , multiple endocrine neoplasia , hyperparathyroidism , endocrine system , men1 , oncology , pediatrics , hormone , genetics , gene , biology
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.