Searchable abstracts of presentations at key conferences in endocrinology

ea0063p610 | Diabetes, Obesity and Metabolism 2 | ECE2019

Description of a novel AGPAT2 gene mutation (R159C) responsible for congenital generalized lipoatrophy type 1 (Berardinelli-Seip Syndrome)

Magno Silvia , Ceccarini Giovanni , Pelosini Caterina , Ferrari Federica , Scabia Gaia , Maffei Margherita , Vitti Paolo , Santini Ferruccio

Berardinelli-Seip congenital lipoatrophy type 1 (BSCL1) is a rare autosomal recessive disease caused by mutations in the AGPAT2 gene. This syndrome is characterized by near total absence of adipose tissue since birth, associated with the progressive development of metabolic complications. The AGPAT2 gene encodes for 1-acylglycerol-3phosphate-O-acyltransferase highly expressed in white adipocytes that catalyzes the acylation of lysophosphatidic acid to form phosphatidic acid, a...

ea0073aep880 | Late Breaking | ECE2021

Subacute thyroiditis at the time of SARS-CoV-2 pandemic

Brancatella Alessandro , Viola Nicola , Rutigliano Grazia , Daniele Sgrò , Santini Ferruccio , Latrofa Francesco

BackgroundSubacute thyroiditis (SAT) has been related to acute respiratory syndrome coronavirus 2 (SARS-CoV-2). We evaluated the incidence and the severity of SAT due to SARS-CoV-2.MethodsA cross-sectional, retrospective study was conducted at the Endocrinology Unit of University-Hospital of Pisa, Italy. All patients experiencing SAT arisen within a period of 15 days earlier and yet untreated, assessed from J...

ea0084ps1-01-04 | COVID & Thyroid Disease | ETA2022

Subacute thyroiditis: The severity depends on the causative agent and the treatment requires a lower glucocorticoid dose than that recommended by the guidelines

Viola Nicola , Brancatella Alessandro , Sgro Daniele , Casula Mauro , Santini Ferruccio , Latrofa Francesco

Subacute thyroiditis (SAT) is an inflammation of the thyroid gland characterized by varying degrees of severity regarding thyrotoxicosis, inflammation and the incidence of hypothyroidism. The present study aims to identify whether the severity of SAT depends on the causative agent involved and to identify what is the optimal therapy. To this purpose we retrospectively evaluated 402 patients referred to of the University Hospital of Pisa because of to a SAT from January 2011 to...

ea0081p126 | Endocrine-Related Cancer | ECE2022

Ultrasound and cytological features of thyroid nodules with aggressive behavior: from histology to clinic

Sgro Daniele , Greco Giuseppe , Brancatella Alessandro , Viola Nicola , Casula Mauro , Torregrossa Liborio , Rago Teresa , Santini Ferruccio , Latrofa Francesco

Fine-Needle Aspiration Biopsy (FNAB) is the recommended diagnostic tool for differentiating malignant from benign thyroid nodules and provides indication for surgical decisions. According to the Italian system, thyroid nodules are classified as TIR 1/1C, TIR 2, TIR 3A, TIR3B, TIR4 or TIR5, which correspond to Thy I, Thy II, Thy III, Thy IV, Thy V and Thy VI categories of the Bethesda system. TIR 3 identifies the indeterminate nodules. Surgery is usually recommended for TIR 3B,...

ea0073pep12.6 | Presented ePosters 12: Diabetes, Obesity, Metabolism and Nutrition | ECE2021

Serum leptin and urine cortisol to cortisone ratio are correlated in familiar partial lipodystrophy type I (Kobberling Syndrome)

Daffara Tommaso , Mancioppi Valentina , Caputo Marina , Leone Ilaria , Ferrero Alice , Pelosini Caterina , Santini Ferruccio , Aimaretti Gianluca , Ceccarini Giovanni , Prodam Flavia

BackgroundIn lipodystrophy (LD) adipose tissue function is impaired, leading to a severe metabolic syndrome. Familiar Partial LD (FPLD) type I (Kobberling Syndrome) overlaps with CushingÂ’s syndrome phenotype. The latter and the metabolic impairment observed in FPLD1 may suggest a crosstalk between the HPA axis, assuming that leptin sensitivity is preserved in this context. We aimed to evaluate if leptin levels are associated with glucocorticoid acti...

ea0081p464 | Thyroid | ECE2022

Steroid treatment in the management of destructive thyrotoxicosis induced by PD1 blockade

Brancatella Alessandro , Pierotti Laura , Lupi Isabella , Montanelli Lucia , Viola Nicola , Sgro Daniele , Sardella Chiara , Antonangeli Lucia , Brogioni Sandra , Cremolini Chiara , Marcocci Claudio , Santini Ferruccio , Latrofa Francesco

Objective: Destructive thyroiditis is the most common endocrine immune related adverse event (iRAEs) in patients treated with anti-PD1/PD-L1 agents. Given its self-limited course, current guidelines recommend no treatment for this iRAE. Nevertheless in patients with enlarged thyroid volume and a poor performance status, thyrotoxicosis may be particularly severe and harmful. Aim of the study is to evaluate if steroid treatment might be useful in improving thyrotoxicosis in subj...

ea0063gp39 | Metabolic Syndrome and Hypoglycaemia | ECE2019

Generalized lipodystrophy associated with delayed neuro-somatic development and multiple dysmorphisms in a neonate with a compound heterozygous missense mutation in the SYNE2 gene

Pelosini Caterina , Ceccarini Giovanni , Aretini Paolo , Lorenzoni Francesca , Magno Silvia , Caligo Maria Adelaide , Sessa Maria Rita , Ferrari Federica , Ghirri Paolo , Santini Ferruccio

Generalized lipodystrophies are extremely rare diseases. Despite remarkable progress in identifying genes responsible for the most common forms of genetic lipodystrophies, the molecular basis of disease in some patients with distinctive phenotypes remains unclear. We herein describe the case of a male patient born from non-consanguineous parent affected by a syndrome characterized by generalized lipodystrophy, psycho-somatic growth retardation, cleft palate, macroglossia, righ...

ea0063p586 | Diabetes, Obesity and Metabolism 2 | ECE2019

Real-world experience of generalized and partial lipodystrophy patients enrolled in the metreleptin early access program

Cook Keziah , Stears Anna , Araujo-Vilar David , Santini Ferruccio , O'Rahilly Stephen , Ceccarini Giovanni , Tibrewala Shruti , Bradt Pamela , Vigouroux Corinne , Vatier Camille , Savage David B

Objective: To evaluate the real-world experience of patients with generalized (GL) and partial (PL) lipodystrophy initiating treatment with metreleptin as part of an early access program (EAP).Methods: A retrospective data collection was conducted from four countries for patients enrolled in the EAP. A descriptive analysis was performed on selected patient characteristics, baseline organ impairments and complications, and response to metreleptin therapy,...

ea0070aep332 | Diabetes, Obesity, Metabolism and Nutrition | ECE2020

Immune checkpoint inhibitors (ICIs) and ‘Fulminant Diabetes’: Two emblematic cases

Sgro’ Daniele , Giannarelli Rosa , Aragona Michele , Viola Nicola , Cosentino Giada , Brancatella Alessandro , Latrofa Francesco , Del Prato Stefano , Santini Ferruccio , Marcocci Claudio , Lupi Isabella

Context: Programmed cell death protein 1/programmed cell death protein ligand 1 (PD-1/PD-L1) are key regulators in T-cell activation and tolerance. Nivolumab (PD-1 inhibitor) and Atezolizumab (PD-L1 inhibitor) are monoclonal antibodies approved for the treatment of several types of advanced cancers. Immune checkpoint inhibition caused by these drugs can result in immune-related adverse events (irAEs) New-onset diabetes mellitus has been reported in fewer than 1% of patients an...

ea0073aep875 | Late Breaking | ECE2021

Management of thyrotoxicosis induced by PD1 or PD-L1 blockade

Brancatella Alessandro , Lupi Isabella , Viola Nicola , Daniele Sgrò , Montanelli Lucia , Sardella Chiara , Molinaro Eleonora , Piaggi Paolo , Elisei Rossella , Marcocci Claudio , Santini Ferruccio , Latrofa Francesco

BackgroundThyrotoxicosis is a common immune-related adverse event in patients treated with PD1 or PD-L1 blockade. A detailed endocrinological assessment, including thyroid ultrasound and scintigraphy is missing, as are data on response to treatment and follow-up. Aim of the study was to better characterize the thyrotoxicosis secondary to immune checkpoint inhibitors, gaining insights into pathogenesis and informing management.Metho...