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...

Case description: A 32-year-old male patient was treated with remdesivir and high-dose steroid for severe COVID-19 pneumonia in an ICU for one month. He was later diagnosed with steroid-induced diabetes mellitus. An endocrinological consultation raised the possibility of endogenous Cushing’s syndrome. He was then referred to our department for further investigation of suspected Cushing’s syndrome (CS). The patient presented with typical physical signs and symptoms of...

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...