Endocrine Abstracts

Cushing’s Disease (CD) is a rare condition characterized by an overproduction of ACTH by an ACTH-secreting pituitary tumor resulting in excess of cortisol release by the adrenal glands. Somatic mutations in the deubiquitinases USP8 and USP48, and in BRAF genes, have been reported in a subset of patients affected by CD. Aim of this study was to characterize the genetic profile of a cohort of 66 patients with ACTH-secreting tumors, searching for somatic mutations in USP8, U...

BackgroundInjectable somatostatin receptor ligands (iSRLs) have been a mainstay in acromegaly treatment. Oral octreotide capsules (OOC; MYCAPSSA®) were recently approved in the USA. Results from the placebo-controlled CHIASMA OPTIMAL and open-label CH-ACM-01 studies showed an OOC safety profile consistent with that of iSRLs with no new or unexpected safety signals. Results of the MPOWERED trial have enabled a comparison of OOC safety and ...

IntroductionInsulinoma-associated-1 (INSM1), encoded by the INSM1 gene is key factor in pancreatic endocrine, sympatho-adrenal and pan-neurogenic development. It has also been identified in multiple tumors of neuroendocrine origin but not thoroughly investigated as a potential neoplastic biomarker. The aim of the study was to evaluated INSM1 as a semiquantitative immunohistochemical biomarker as well as quantitative reverse transcriptase polymer...

ObjectiveThe objective of this systematic review was to assess the proportion of patients with prolactinomas that obtain remission or experience adverse effects after transsphenoidal surgery.DesignA systematic review. Registered at PROSPERO, registration number CRD42020213002MethodsA bibliographical search of PubMed and Embase was performed and last updated on Sep...

BackgroundSurgical resection is indicated in patients with non-functioning pituitary adenomas (NFPA) causing visual defects or tumor growth in proximity to the optic chiasm. The aim of this study was to systematically assess the benefits and harms of pituitary endocrine function after transsphenoidal surgery in patients with NFPAs.MethodsThis study was conducted a systematic review that searched for potential...

IntroductionShort stature (SS) assessment includes the documentation of growth hormone (GH) secretion via GH stimulation tests.ObjectivesTo study retrospectively GH stimulation test results among Greek children with SS and investigate differences among GH deficient (GHD) children vs idiopathic short stature (ISS).MethodsData were collected retrospectively from 190...

Pituitary neuroendocrine tumors (PitNETs) are non-metastatic neoplasms of the pituitary that may overproduce hormones leading to systemic disorders or tumor mass effects causing headache, vertigo, or visual impairment. The overall estimated clinical prevalence of PitNETs is 1 in 400 to 1 in 1000 people. Although the pathogenesis of PitNETs has been extensively studied the molecular factors underlying tumorigenesis, remission, and therapy response of PitNETs are still unclear. ...

IntroductionHyponatraemia is the most common electrolyte abnormality encountered within the inpatient setting and is associated with increased morbidity, mortality and length of hospital stay. It compromises a spectrum of symptoms, from being asymptomatic to varying degrees of neurological disturbances including gait abnormalities with increased risk of falls, confusion and rarely seizures. This is of particular relevance in the midst of an aging populat...