Endocrine Abstracts

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...

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...

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...

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...

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...

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...

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 ...

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...

Aim: Prolactinomas are the most frequent pituitary adenomas. Clear predictors of response to dopamine agonists (DA) are still discussed. The purpose of the study was to evaluate the clinical, radiological and hormonal characteristics of PRL-secreting pituitary adenomas, and to evaluate morphological changes over time and predictors of response to DA.Patients and Methods: Patients affected by PRL-secreting adenoma undergoing DA therapy in follow-up in a t...