Searchable abstracts of presentations at key conferences in endocrinology

ea0016p588 | Paediatric endocrinology | ECE2008

Epigenetic defects at GNAS DMRs in PHP-Ia patients lacking coding GNAS mutations

Bondioni Sara , Mantovani Giovanna , Labarile Pamela , de Sanctis Luisa , Peverelli Erika , Lania Andrea , Beck-Peccoz Paolo , Spada Anna

Pseudohypoparathyroidism (PHP) is a disorder characterized by hypocalcemia and hyperphosphatemia due to end-organ resistance to the action of PTH. The two main subtypes of PHP, PHP type Ia and Ib are caused by heterozygous loss-of-function mutations in GNAS exons 1–13, which encode Gsα, and by methylation defects in the imprinted GNAS cluster, respectively. Individuals affected with PHP-Ia typically show clinical abnormalities referred to as Albright hereditary osteo...

ea0014oc9.5 | Signal transduction | ECE2007

The third intracellular loop of human SST5 is crucial for receptor internalization after SS28 stimulation

Peverelli Erika , Mantovani Giovanna , Lania Andrea G , Calebiro Davide , Doni Andrea1 , Bondioni Sara , Beck-Peccoz Paolo , Spada Anna

Somatostatin (SS) is a widely distributed polypeptide that exerts inhibitory effects on hormone secretion and cell proliferation by interacting with five different receptors (SST1-SST5), that display important differences in tissue distribution, coupling to second messengers, affinity for SS and intracellular trafficking. SS analogues currently used in the treatment of acromegaly inhibit hormone secretion and cell proliferation by binding to SST2 and 5. Beta-arrestins have bee...

ea0014p505 | (1) | ECE2007

Growth hormone replacement therapy and metabolic parameters in adult-onset GH-deficiency: long-term effects.

Giavoli Claudia , Ferrante Emanuele , Bergamaschi Silvia , Cristina L Ronchi , Francesca Doanadio , Andrea Lania , Anna Spada , Paolo Beck-Peccoz

Aim of this study was to evaluate the impact of rhGH treatment on glucose and lipid metabolism in in 26 patients (17M and 9F, age 47.0±11.1 years) with adult onset GH deficiency. Metabolic parameters (fasting glucose and insulin, glycated haemoglobin, lipid profile, body composition, OGTT) and indices of insulin resistance (IR) and sensitivity (IS), i.e. homeostasis model assessment (HOMA-IR and derived ISI-HOMA), quantitative insulin check index (QUICKI), ISI-composite, ...

ea0014p531 | (1) | ECE2007

Long-term evaluation of hypotalamic-pituitary-adrenal (HPA) axis in acromegalic patients during somatostatin analogs therapy and after successful surgery

Ronchi Cristina L , Rizzo Erica , Ferrante Emanuele , Giavoli Claudia , Lania Andrea G , Beck-Peccoz Paolo , Spada Anna

Long-term effects of trans-naso-sphenoidal surgery (TNS) and long-acting somatostatin analogs (SSTa) on hypotalamic-pituitary-adrenal (HPA) function have been poorly investigated. Aim of the study was to evaluate over time the integrity of HPA axis in acromegalic patients with baseline preserved adrenal function and treated with one or both available treatments. We selected 23 patients (15F & 8M, age (±S.D.)=46.8±13.7 yrs) with normal (n=19)...

ea0011p189 | Clinical practise and governance | ECE2006

Recombinant hGH therapy in males with organic GHD: should we trust in total testosterone levels for diagnosis of central hypogonadism?

Giavoli C , Lania AG , Ferrante E , Ermetici F , Bergamaschi S , Ronchi CL , Ambrosi B , Spada A , Beck-Peccoz P

Previous evidences have suggested that in adults with organic hypopituitarism the condition of GH deficiency (GHD) could mask the presence of other pituitary deficits. In our experience, both central hypothyroidism and hypoadrenalism were unmasked during rhGH therapy in adults with GHD due to central organic lesions. Few and conflicting information are available about the relationship among GHD, rhGH therapy and gonadal function. Aim of the present study was to investigate the...

ea0011p520 | Endocrine tumours and neoplasia | ECE2006

Role of PKA regulatory subunit 2B protein on cortisol-secreting adrenocortical cells proliferation

Lania A , Mantovani G , Bondioni S , Peverelli E , Ferrero S , Vicentini L , Bosari S , Beck-Peccoz P , Spada A

The two regulatory subunits (R1 and R2) of PKA are differentially expressed in several cancer cell lines and studies indicate distinct roles for these subunits in growth control. Recently, mutations of the regulatory subunit 1A of PKA gene have been identified in patients with Carney complex (CNC). The aim of this study was to evaluate the expression of the different PKA regulatory subunits (R1A, R2A, R2B) in adrenocortical tumors not associated with CNC, as well as the effect...

ea0081oc8.1 | Oral Communications 8: Calcium and Bone | ECE2022

Effectiveness of anti-resorptive drugs on risk of vertebral fractures in women receiving aromatase inhibitors: a prospective study in real-life clinical practice

Mazziotti Gherardo , Vena Walter , Pigni Stella , Carrone Flaminia , Pedersini Rebecca , Cosentini Deborah , Torrisi Rosalba , Birtolo Maria Francesca , Maida Giulia , Berruti Alfredo , Lania Andrea

Bone loss is a frequent complication of aromatase inhibitors (AIs) therapy in women with breast cancer. Bone-active drugs are effective in protecting the skeleton from detrimental actions of AIs. However, bone mineral density (BMD) was the primary end-point in most of published studies, whereas data on fractures were scant and mainly limited to denosumab. In this prospective study, we investigated the effects of denosumab, oral bisphosphonates and intravenous zoledronate on ri...

ea0081p299 | Calcium and Bone | ECE2022

Impact of body composition on skeletal health in subjects with Klinefelter’s syndrome: a cross sectional study

Carrone Flaminia , Vena Walter , Delbarba Andrea , Chiara Pezzaioli Letizia , Facondo Paolo , Cappelli Carlo , Pizzocaro Alessandro , Mazziotti Gherardo , Lania Andrea Gerardo , Ferlin Alberto

Background: There is growing awareness of skeletal impairment in individuals with Klinefelter syndrome (KS), involving both quantitative and qualitative alteration of the bone as well as an increased prevalence of vertebral fractures (VFs). Beyond hypogonadism, considerable evidence suggests that other factors may be responsible for the skeletal fragility observed in these patients. Abnormal body composition is a common finding in KS subjects, characterized by an unfavourable ...

ea0081p549 | Calcium and Bone | ECE2022

Artificial intelligence based on radiomic analysis of lumbar spine computed tomography (ct) scan may improve accuracy in detecting osteoporosis

Biamonte Emilia , Garoli Federico , Levi Riccardo , Vena Walter , Carrone Flaminia , Jafaar Simona , Fornari Maurizio , Grimaldi Marco , Politi Letterio , Lania Andrea , Mazziotti Gherardo

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...

ea0063gp236 | Anterior and Posterior Pituitary | ECE2019

Characteristics and natural history of a large cohort of non-functioning pituitary incidentalomas: a two-centers study

Betella Nazarena , Tresoldi Alberto , Carosi Giulia , Sindaco Giulia Del , Locatelli Marco , Mazziotti Gherardo , Milani Davide , Morenghi Elena , Spada Anna , Arosio Maura , Mantovani Giovanna , Lania Andrea

Context: Available data on the natural history of pituitary incidentalomas (PI) are not strong enough to draw any evidence-based conclusion on timing and length of follow up of these masses, due to heterogeneity and low sample sizes.Objective: To describe the characteristics and the natural history of PI using data from a large cohort of patients investigated in two Italian Pituitary Centers.Patients and methods: Retrospective stud...