Endocrine Abstracts

Background: Prednisolone is the most commonly prescribed exogenous glucocorticoid(GC) and its use is frequently associated with the development of iatrogenic Cushing’s Syndrome. Once administered, prednisolone is rapidly converted to inactive prednisone by renal 11β-hydroxysteroid dehydrogenase type 2(11β-HSD2) and subsequently reactivated by 11β-HSD1. We have shown previously that 11β-HSD1 inhibition(with the selective 11β-HSD1 inhibitor, AZD4017...

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...

Parathyroid carcinoma (PC) is very rare and difficult to differentiate from atypical parathyroid adenoma (AA). En-bloc surgical resection is recommended, but most cases are diagnosed after non-radical surgery, and it is recommended to expand it. Given the rarity of the cases, the difficulty in the histological diagnosis (HD) and the unpredictability of the evolution, we analyzed our experience with PC and AA.Material and methods: We conducted a ...

Introduction and Objective: X-linked adrenoleukodystrophy (X-ALD) is a rare disease caused by a mutation in the ABCD1 gene (Xq28). It is characterized by the absence of very long-chain fatty acids (VLCFAs) degradation, leading to their accumulation primarily in the central and peripheral nervous system, adrenal cortex, and gonads. It presents a variable clinical spectrum and prognosis. The aim of our study is to describe the characteristics of all X-ALD patients under follow-u...

Rationale: The Global Leadership Initiative on Malnutrition (GLIM) criteria was recently proposed as the world’s first diagnostic criteria for malnutrition in adults in hospital settings. The GLIM approach is based on the assessment of three phenotypic and two etiologic criteria, with diagnosis confirmed by any combination of one phenotypic and one etiologic criterion fulfilled. The purpose of this study was to evaluate the prevalence phenotypic criteria of GLIM in hospit...

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...

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...

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...

Sleep apnea (SA) is a common acromegaly comorbidity, influencing patients’ quality of life and mortality risk. Despite its importance, SA frequently remains undiagnosed, and its real prevalence seems to be underestimated. The current observational study aimed at investigating the role of Berlin questionnaire (BQ) and Epworth sleepiness scale (ESS) in assessing the risk of SA in this high-risk population, and to compare the results with an age-and gender-matched health coh...

Objective: Since the relationship between thymic hyperplasia (TH) and Graves’ Disease (GD) is of paramount importance for diagnostic and therapeutic choices, a wider knowledge of this association is required for endocrinologists in routine clinical practice. Our aim was to assess the prevalence, the clinical features, and the response to treatment of GD-related TH in an Academic referral centre.Methods: All consecutive cases of GD-related TH at Univ...