Multiple Endocrine Neoplasia and Hyperparathyroidism
Multiple endocrine neoplasia (MEN1), also known as warmer's syndrome , is defined by a MEN1 gene mutation, characterized by 1)primary hyperparathyroidism(PHPT) and hypercalcemia resulting from parathyroid adenomas, 2)hormone secreting or nonsecreting pancreatic islet tumors (commonly gastrinomas, 3) anterior pituitary neuroendocrine tumors (pitNETs), ,although MEN1 may present with any of its major constituent manifestations, the Primary hyperparathyroidism (PHPT) is the most common and often earliest endocrine manifestation in MEN1[1] , parathyroid tumors in MEN1 is usually benign and hyperactive in its function, leading to primary hyperparathyroidism (PHPT), the clinical manifestations of (MEN1) related (PHPT ) are rather similar to those of sporadic PHPT cases, referring to bone loss and kidney stones, however PHPT/MEN1 usually starts four decades earlier, and its secondary bone and renal effects are often more sever than in sporadic cases
Other
Primary hyperparathyroidism is a common endocrinological disorder, it is associated with familial syndromes, such as multiple endocrine neoplasia type 1 (MEN1), this syndrome is caused by inactivating mutation of the tumor suppressor gene MEN1, which located on chromosome 11q13, consisting of 10 exons encoding a protein of 610 amino acids called menin, which is a nuclear protein with functions in transcriptional regulation, genome stabilization, cell division and proliferation, typically primary hyperparathyroidism is the initial clinical manifestation in MEN1 mutation occurring in more than 90% of patients and appearing at a young age, usually accompanied by multiglandular disease, clinically manifesting with hypercalcemia, it can remain asymptomatic for a long time and consequently not always be recognized early
