Searchable abstracts of presentations at key conferences in endocrinology

ea0073aep201 | Diabetes, Obesity, Metabolism and Nutrition | ECE2021

Liraglutide for weight management in syndromic obesity: effects in overgrowth adult Beckwith–Wiedemann syndrome

Caputo Marina , Daffara Tommaso , Bellone Simonetta , Mancioppi Valentina , Marzullo Paolo , Aimaretti Gianluca , Prodam Flavia

ContextGenetic obesity, including syndromic and non-syndromic forms, represent a minority of cases but gene dysregulations make their management particularly difficult. Among them, Beckwith–Wiedemann syndrome (BWS) is a multisystem human genomic imprinting disorder characterized by overgrowth, macroglossia, abdominal wall defects, hemi hyperplasia, enlarged abdominal organs, and an increased risk of embryonal tumours. The syndrome is caused by genet...

ea0081ep569 | Endocrine-Related Cancer | ECE2022

Novel pathogenetic mutation of MEN1 gene causing hyperparathyroidism, pancreatic glucagonoma, adrenal adenoma, and collagenomas

Pitino Rosa , Vimercati Davide , Pizzolitto Francesca , Mollero Edoardo Luigi Maria , Daffara Tommaso , Ferrero Alice , Boldorini Renzo , Caputo Marina , Prodam Flavia

Background: Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary autosomal dominant tumor syndrome caused by inactivating mutations of the tumor suppressor gene MEN1 which encodes the protein menin. It is characterized by the occurrence of tumors involving two or more endocrine glands, primarily parathyroid, entero-pancreatic, and anterior pituitary, as well as non-endocrine neoplasms. Glucagonomas occur in fewer than 3% of patients with MEN1, causing hyper...

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 Cushing’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...

ea0099p267 | Diabetes, Obesity, Metabolism and Nutrition | ECE2024

Acquired partial lipodystrophy: leptin and glucose blood levels in a pregnant patient

Romanisio Martina , Bighetti Leonardo , Daffara Tommaso , Ciamparini Carola , Vimercati Davide , Pitino Rosa , Pelosini Caterina , Aimaretti Gianluca , Caputo Marina , Prodam Flavia

Lipodystrophy syndromes are a rare and heterogeneous disease characterized by loss of subcutaneous adipose tissue, deposition of fat in ectopic areas, and consequently metabolic impairment, and its recognition is based on physical examination and clinical history. Because of the complexity of the disease, pregnancy represents a dainty and challenging event, still understudied. Here we report a case of a 28 year-old Caucasian female followed for type 2 diabetes and hypertriglyc...

ea0099p366 | Reproductive and Developmental Endocrinology | ECE2024

“Brief intelligence test” questionnaire in klinefelter syndrome: may words improve diagnosis?

Vimercati Davide , Marinelli Lorenzo , Cagnina Serena , Daffara Tommaso , Bichiri Andrea , Di Bisceglie Cataldo , Motta Giovanna , Lanfranco Fabio , Zavattaro Marco

Background: The clinical burden of Klinefelter Syndrome (KS) is not limited to the impairment of gonadal function and an increased prevalence of cardio-metabolic, endocrinological and oncological diseases, but also involve several cognitional, behavioural and psychological issues. Because of the wide heterogeneity in clinical phenotype, the diagnosis of KS is still challenging, resulting in a significant number of patients to remain undiagnosed or to have a late diagnosis. Ver...

ea0081p606 | Diabetes, Obesity, Metabolism and Nutrition | ECE2022

The ecology of the microbiome in children with congenital generalized lipodystrophy type 4 (CGL4) is quickly modified after metreleptin treatment

Daffara Tommaso , Mancioppi Valentina , Caputo Marina , Bellone Simonetta , Massa Nadia , Caramaschi Alice , Mignone Flavio , Romanisio Martina , Rabbone Ivana , Giordano Mara , Aimaretti Gianluca , Bona Elisa , Prodam Flavia

Introduction: Lipodystrophy syndromes are characterized by a progressive metabolic impairment secondary to adipose tissue dysfunction and genetic background. The role of microbiota is still uninvestigated.Objective: Evaluate the gut microbiome ecology in relation to dietary and clinical parameters in two infant siblings with congenital generalized lipodystrophy type 4 (CGL4) before and after treatment with recombinant leptin.Method...

ea0081p673 | Pituitary and Neuroendocrinology | ECE2022

Transition in endocrinology: predictors of drop-out in a heterogeneous population during long-term follow-up

Romanisio Martina , Brasili Sara , Daffara Tommaso , Ferrero Alice , Vimercati Davide , Pizzolitto Francesca , Pitino Rosa , Luigi Maria Mollero Edoardo , Zavattaro Marco , Bellone Simonetta , Caputo Marina , Aimaretti Gianluca , Prodam Flavia

Aim: To evaluate: 1) clinical and epidemiological characteristics of outpatients transitioned from Pediatrics Endocrine (PED) to Adult Endocrine Department (AED) in a tertiary Centre; 2) transition process characteristics, and predictive factors of drop-out.Patients and methods: Demographic, clinical, and transition features of 170 consecutive patients with paediatric onset of chronic endocrine or metabolic disease (excluded type 1 diabetes) who transiti...

ea0081ep90 | Adrenal and Cardiovascular Endocrinology | ECE2022

Tumor enlargement in adrenal incidentaloma is related to glaucoma and statin treatment: are there two new prognostic features?

Ferrero Alice , Daffara Tommaso , Mele Chiara , Zavattaro Marco , Romanisio Martina , Cavigiolo Beatrice , Costelli Samuele , Caputo Marina , Marzullo Paolo , Prodam Flavia , Aimaretti Gianluca

Aim: The uncertainty on the management of small adrenal incidentalomas (AIs) in guidelines still represents a challenge in real clinical practice. The aim of the study was to identify risk factors for morphological or functional changes during follow-up by using clinical, radiological, and pathological features.Methods: We retrospectively evaluated demographic (gender and age at diagnosis), clinical (weight, height, body mass index, smoking habit, comorb...

ea0090p11 | Adrenal and Cardiovascular Endocrinology | ECE2023

Diagnostic accuracy of 18F-FDG PET/TC for the characterization of adrenal lesions in a heterogeneous population

Romanisio Martina , Daffara Tommaso , Pitino Rosa , Ferrero Alice , Zavattaro Marco , Biello Federica , Gennari Alessandra , Mauro Sacchetti Gian , Aimaretti Gianluca , Prodam Flavia , Caputo Marina

Purpose: Diagnosis of adrenal lesions requires hormonal investigation and morphological characterization; when CT and MRI imaging are equivocal, 18F-FDG-PET/CT could be a useful tool, although sensitivity and specificity varied among cohorts. The use of tumour-to-liver maximum standardized uptake values (SUVratio) was found to be accurate, but the best threshold value has not been identified yet. A SUVratio > 1.5 was associated with malignancy with a good performance. The ...

ea0090p608 | Diabetes, Obesity, Metabolism and Nutrition | ECE2023

Intestinimonas butyriciproducens improves glucose metabolism in subjects with obesity and prediabetes: preliminary data from a randomized controlled trial

Antoniotti Valentina , Caputo Marina , TIni Sabrina , Antonioli Alessandro , Daffara Tommaso , De Marchi Silvia , Bona Elisa , Amoruso Angela , Pane Marco , Gul Sahin , Aimaretti Gianluca , Seegers Jos , Prodam Flavia

As the prevalence of type 2 Diabetes Mellitus (T2D) is constantly increasing and the current prevention is not enough, new effective strategies are necessary, in particular in high-risk individuals. Therapeutic microbiology is one of further proposed targets, and, in particular, butyrate-producing bacteria can improve metabolic parameters in obese patients. Our study aims to evaluate the effect of Intestinimonas butyriciproducens as a preventive therapy for T2D in pre...