Endocrine Abstracts

Introduction: Pheochromocytomas and paragangliomas (Pheo/PGL) are rare neuroendocrine tumours arising from the adrenal medulla or the symphathetic paraganglia, respectively. Germline mutations are present in ~40% of the patients. To date, at least 16 genes have been demonstrated to be involved in the genetic background of Pheo/PGL. Prioritization in order of genes tested can be applied, but if the probability of a disease-associated germline mutation exceeds 10% the testing of...

Background and aim: Primary hyperparathyroidism (PHPT) is a frequent endocrinopathy among postmenopausal women, leading to hypercalcaemia, osteoporosis and nephrolithiasis. PHPT may represent the first manifestation of certain familial syndromes. Among these, multiple endocrine neoplasia syndrome type 1 (MEN-1) caused by germline mutation of MEN1, the gene encoding menin, is the most frequent. Additionally, somatic mutations of MEN1 and microRNAs silencing <e...

Objective: Multiple endocrine neoplasia type 1 (MEN1) is a rare heritable tumor syndrome caused by germline mutations of MEN1 gene affecting mainly the parathyroid, pituitary and pancreas. Phenotype varies widely, even in first-degree relatives. Recently it has been shown that functionally active gastroenteropancreatic neuroendocrine tumors (GEP-NETs), initially frequently diagnosed as sporadic cases, lead to MEN1 diagnosis. Non-functioning tumors are increasingly rec...