Endocrine Abstracts

The incidence of Neuroendocrine Neoplasm (NEN) and related carcinoid syndrome (CS) increased markedly in recent decades, and women appear to be more at risk than men. As per other tumors, gender may be relevant in influencing the clinical and prognostic characteristics. Unfortunately, there are no studies designed to answer this question in the literature. The present multicentric study was designed to evaluated gender differences, if any, in clinical presentation and outcomes...

Background and objective: The incidence of differentiated thyroid carcinoma (DTC) is increasing worldwide. Radioiodine (RAI) ablation is one of the main elements in the therapy of DTC after surgical removal of the gland. This study aims to compare the use of I131 in a Spanish Cohort of DTC before and after the American Thyroid Association (ATA) 2009 guidelines.Patients and methods: The Cadit-CAM study was designed to evaluate retrospectively characterist...

Case history: A 30 years old male Caucasian had his saliva tested on a self-funded commercial DNA testing to identify his ancestral roots. The markers for Y chromosome were found to be absent and further evaluation revealed him to have 46 XX karyotype.This was consistent with the diagnosis of De la Chapelle syndrome or XX male syndrome. Fluorescence in situ hybridization (FISH) studies confirmed the presence of SRY (sex determining region Y) gene which was responsible...

Background: LA-SSA therapy, including octreotide long-acting release (LAR) and lanreotide depot (LAN), is recommended as first-line therapy for treatment of unresectable or metastatic NETs. Understanding treatment sequencing and dosing patterns of LA-SSAs is essential for clinical decision-making to provide value-based management of NET for both the patients and healthcare system. This study describes treatment patterns of LA-SSA therapy among privately insured patients with N...

Introduction: Results of the first European real-world evidence from retrospective cohort of ACRONIS study previously confirmed the efficacy and tolerability of LA-PAS in heavily pre-treated, uncontrolled acromegaly patients. Here, we report results of the second interim analysis reflecting the prospective cohort.Methods: Patients who were treated with LA-PAS for ≥6 months were included in this analysis. The primary objective was to document treatm...

UPD is a congenital disease characterized by the presence of two homologous chromosomes inherited from one parent in a diploid offspring. Its effects can be dramatic when the expression of essential genes is lacking. This is due to a phenomenon known as genomic imprinting where only one of the two chromosomal copies is active, depending on the parent of origin. Maternal uniparental disomy of the chromosome 14 (UPD 14 mat) is a rare disorder characterized by prenatal a...

Neuroendocrine gastroenteropancreatic tumours (GEP–NETs) are considered rare malignancies that are characterized by their ability to produce a great variety of peptides that may cause characteristic hormonal syndromes. In this study, we examined the epidemiology, clinical behaviour and prognostic factors of GEP–NETs identified in Castilla La Mancha (Spain) from 1995–2010.Patients and methods: Two hundred and sixteen patients with GEP–...

Anna Spada is currently Full Professor at the School of Medice, University of Milan. Her main research interests are on signal transduction in pituitary cells, pathogenesis of pituitary tumors, genotype/phenotype relationships in acromegalic patients with gsp mutations, tissue specific GNAS1 gene imprinting, molecular mechanisms of resistance to hormone action, activating and inactivating mutations of GNAS1 in endocrine disorders, polymorphic variants of somatostatin receptor ...

Background: Pituitary adenomas (PAs) in the elderly, defined as people older than 65 years, represent less than 10% of all PAs. Because of increasing life expectancy and improving health care, diagnosis PAs in this age group is increasing with time. Age-related changes and associated diseases may significantly modify the clinical presentation in these patients, delaying the diagnosis of PAs.Objective: To analyse the clinical features of PAs in elderly pa...

Background: No direct prospective studies comparing laser ablation (LA) and radiofrequency ablation (RFA) for debulking benign non-functioning thyroid nodules (BNTNs) exist. We aimed to compare the efficacy and safety of both techniques in patients with solid or predominantly solid BNTN.Methods: This six-month, single-use, randomized open label parallel trial compared the following primary endpoints between the RFA and LA groups six months after treatmen...