Endocrine Abstracts

Background: Adrenal involvement in multiple endocrine neoplasia type 1 (MEN1) has been reported, its prevalence varying from 9 to 73%. The aim of this study was to characterize the adrenal phenotype and the prevalence and clinical significance of cortisol hypersecretion in a cohort of MEN1 patients.Methods: We retrospectively analyzed data of 36 adult patients with germline menin mutation (20 females; mean age 50±17.4 years) in regular follow-up at ou...

Introduction: Children born small for gestational age (SGA) represent a heterogeneous population, displaying different phenotypes for both growth and metabolic status. Low birth length and/or weight increases the risks for not only growth impairment but also for metabolic derangements, the latter with an even amplified risk in children with rapid postnatal weight gain. Variability in metabolic parameters, catch-up growth as well as different GH treatment responses are still po...

Introduction: Transition from childhood to adulthood represents a time-period in which adolescents/young adults (AYAs) with chronic illnesses start coping with self-managing their disease, often resulting in poor compliance to follow-up. Indeed, up to 50% of AYAs with common endocrine disorders is lost during the referral to an adult clinic. Transition in Endocrinology is poorly investigated yet, in terms of transition readiness, compliance to therapy, adherence to nutritional...

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: The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic disease (Covid-19) affects thyroid function with different mechanisms: non-thyroidal illness syndrome (NTIS), direct infection of thyroid gland and cytokine storm. We provided the first description of painless atypical thyroiditis coexisting with NTIS in patients hospitalised for moderate-to-severe Covid-19 disease. We aimed to: 1) correlate thyroid dysfunction with Covid-19 disease severity;...

Introduction: Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a rare cause of Cushing’s syndrome (CS). Some familial forms have been associated to gene ARMC5 (Armadillo repeat-containing protein 5) inactivating mutations. This study aimed to evaluate the prevalence and the complications of ARMC5 mutations in our cohort of patients with bilateral adrenal incidentalomas (BAI).Methods: 72 patients, referred to our Center...

Introduction: The serum calcium/phosphorus (Ca/P) ratio has been proposed to identify patients with primary hyperparathyroidism and chronic hypoparathyroidism (HPT) from healthy subjects. However, other disorders of the Ca-P metabolism might present similar biochemical profile of HPT, such as pseudohypoparathyroidism (PHP), for which the use of Ca/P can be useful. Aim: To test the performance of Ca/P ratio in the diagnosis of PHP in comparison to healthy...

Dopamine receptor type 2 (DRD2) agonists (DA) are the first-choice treatment for prolactin (PRL)-secreting pituitary tumors, but poorly effective in non-functioning (NF)-PitNETs. Along with G protein-dependent signaling, DRD2 also mediates non-canonical beta-arrestin-dependent pathways, where reduction of AKT phosphorylation plays a leading role for the antiproliferative effect of DRD2 in pituitary tumors. Through UNC9994 and MLS1547, a beta-arrestin 2-biased and a G protein-b...

Introduction: First-generation SRL (fg-SRL) represent the treatment of choice in acromegaly patients with post-neurosurgical adenomatous remnant and GH-hypersecretion. Anyway, approximately 60% of patients do not achieve adequate disease control. The main predictors of resistance include male sex, young age, invasiveness of the lesion and its hyperintensity on T2-weighted MRI scans; but also, SSTR2 expression, the cytokeratin pattern, Ki-67 and the presence of AIP gene mutatio...

Adrenocortical carcinomas (ACCs) are rare endocrine tumors with poor prognosis. They overexpress the insulin-like growth factor 2 (IGF2), that drives a proliferative autocrine loop by binding to IGF1R and IR. The majority of studies focused on IGF1R as mediator of IGF2 biological effects, but recently a high expression of IR, in particular of the isoform A, was observed in most ACCs, suggesting a potential role of this receptor in modulating IGF2 effects in adrenocortical tumo...