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: Pubertal induction in girls with hypogonadism through estrogen replacement therapy (ERT) aims at mimicking physiological puberty. To date, the best induction regimen is still to be established.Aims: By setting up a multicentre clinical registry, we analysed longitudinal data on pubertal induction in girls with hypogonadotropic hypogonadism or premature ovarian insufficiency (congenital, acquired, isolated or associated with multiple pituitary...

Introduction: The onset and progression of liver damage in non-alcoholic fatty liver disease (NAFLD) is tightly associated with metabolic derangements. Steroids may affect lipid metabolism but their alterations in the setting of NAFLD remain to be fully explored.Patients and Methods: We analyzed data from 121 patients with biopsy-proven NAFLD and 108 controls (CT). A panel of 26 steroids (including glucocorticoids, mineralocorticoids, androgens, and prog...

Background: Osteoporosis is characterized by reduced bone mass and a compromised bone microstructure, leading to increased bone fragility and fracture risk. Currently, the gold standard for diagnosis is the bone mineral density (BMD) measurement by DXA. However, approximately half of fragility fractures occurs in the context of normal or slightly decreased BMD values.Protocol: In this cross-sectional study, we performed an artificial intelligence (AI)-ba...

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...

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...

Background: The systematic use of confirmatory tests in the diagnosis of primary aldosteronism (PA) increases costs, risks and complexity to the diagnostic work-up. In light of this, some authors proposed aldosterone-to-renin (ARR) cut-offs and/or integrated flow-charts to avoid this step. Patients with resistant hypertension (RH), however, are characterized by a dysregulated renin-angiotensin-aldosterone system, even in the absence of PA. Thus, it is unclear whether those str...

Rationale and aim: A recent pangenomic study documented a subset of somatotroph mostly GNAS-wildtype PitNET/adenomas co-express steroidogenic factor 1 (SF1). Aim of our study was to investigate clinical and molecular features of a cohort of these tumour subtype. Study sample: We identified 20 cases of SF1-expressing somatotropinomas out of 173 (11.6%) operated via transsphenoidal endoscopic approach in 3 referral Pituitary Centers patients. Pre- and post...

Introduction: AIP mutations are responsible for 15-30% of cases of familial isolated pituitary adenomas. The pathophysiology that drives this AIP-related pituitary tumorigenesis is not fully understood. We developed a pituitary-specific Aip knockout (KO) mouse model, which mostly recapitulates the human phenotype.Aims: To performed comparative gene expression analysis of Aip-KO mouse pituitary tumours and AIP mutation positive ...

Background: Fractures are frequent in patients with chronic renal failure (CRF) with secondary hyperparathyroidism (SHPT) undergoing hemodialysis. Cinacalcet (CT) is a drug used in the reduction of hypercalcemia in these patients that acts through the lintel calcium sensor in the parathyroid gland. Recently, it has been pointed out that CT can reduce fractures in these patients by unknown mechanisms (EVOLVE Trials 2015).Objectives: To evaluate the effect...