Endocrine Abstracts

Objective: Phenotypic variability and lack of genotype-phenotype correlations still represent a major challenge in the surveillance of patients carrying germline MEN1 (Multiple Endocrine Neoplasia type 1) mutations. MEN1 associated gastroenteropancreatic neuroendocrine tumors (GEP-NETs) are highly penetrant and show an indolent course. However, they are still the leading cause of death in MEN1 syndrome. Some single-center and national studies reported higher prevalence of GEP-...

Objective: Glucocorticoids exert their effects through the glucocorticoid receptor (GR). The local, cell-type specific glucocorticoid effect is modulated by the 11β-hydroxysteroid dehydrogenase enzymes (HSD11B) responsible for the interconversion of cortisone and cortisol. Individual sensitivity against glucocorticoids and activity of the HSD11B enzymes are at least partly determined by genetic factors.Aim: To test whether SNPs of GR and HSD11B1 gen...

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...