Endocrine Abstracts

Somatic mutations in splicing factor 3 subunit B1 (SF3B1) were found in about 20% of PRL-secreting PitNETs. SF3B1 is involved in pre-mRNA splicing and required for assembly of the U2 complex, which is critical for branch site recognition and the early stages of spliceosome assembly. Patients with mutant prolactinomas showed higher PRL levels and shorter progression-free survival compared to wild-type patients. Aims of the present study were: 1) to characterize the genetic prof...

Background: Hypoactive Sexual Desire Disorder (HSDD) is associated with dysfunctional brain activation in regions governing sexual responses, resulting in a deficiency/absence of sexual desire with marked distress. It affects up to 8% of men with detrimental effects on quality of life, interpersonal relationships and fertility, but so far has no licensed treatment options. The reproductive neuropeptide kisspeptin offers a putative therapeutic target owing to its emerging role ...

Background: Osilodrostat is a potent oral inhibitor of the adrenal enzymes aldosterone synthase and 11b-hydroxylase and decreases glucocorticoid and mineralocorticoid production and secretion. Phase 2 and 3 studies from the osilodrostat clinical trial programme have demonstrated the drug’s efficacy and safety in patients with Cushing’s disease. Osilodrostat received European Marketing Authorization (MA) for the treatment of Cushing’s syndrome (CS) in adults....

Introduction: Osilodrostat is a new 11 ß-hydroxylase inhibitor with a mode of action analogue to metyrapone. It has become increasingly used in recent years for treatment of Cushing’s Syndrome (CS). However, few in vivo studies are currently available to accurately compare both drugs characteristics. The objective of our study was to compare steroidogenic profiles in patients treated by either Osilodrostat or Metyrapone for ACTH-dependent CS.Me...

Background: Pituitary adenomas (PAs)/Pituitary Neuroendocrine Tumors (PitNETs) are a complex and heterogeneous group of lesions. Genetic and epigenetic studies have been performed to identify predictors of treatment outcome.Study aim: To profile clinically non-aggressive (NA) and aggressive (A) PAs/PitNETs, and carcinomas for somatic mutations and epigenetic alterations of genes involved in cell proliferation/differentiation, miRNA/lncRNA-post-transcript...

Background: Invasive nonfunctioning (NF) pituitary neuroendocrine tumors (PitNETs) are non-resectable neoplasms associated to frequent relapse and significant comorbidities. As current treatments often fail against NF-PitNETs, identifying actionable therapeutic targets is essential. We focused on the angiopoietin-2 (Angpt2)/Tie2 axis, usually active in endothelial cells (ECs).Methods: ANGPT2 plasma levels in NF-PitNET patients and healthy controls were m...