Endocrine Abstracts

Introduction: Anaplastic thyroid carcinoma, either by its low frequency, or by its poor prognosis, is still as a therapeutic challenge. One of the options available is the combined chemoradiation therapy, the basis of the following case.Case report: Male patient, 76 years old, with a history of neck swelling for 4 months. The cervical ultrasound showed a nodule in the right lobe of the thyroid with 7 by 5 cm and the cytology revealed follicular tumor. Su...

Objective: The pathogenesis of pituitary tumours is still incompletely understood. Somatotropinomas occur both sporadically and in the context of familial syndromes, such as multiple endocrine neoplasia type 1 (MEN1), Carney complex (CNC) and isolated familial somatotropinoma (IFS). Recently, germline mutations were reported in AIP (aryl hydrocarbon receptor interacting protein) gene in Finish and Italian families and in Finish patients with apparently sporadic pituitar...

Introduction: A possible involvement of proteasomes in the pathogenesis of type II diabetes mellitus has been recently reported. Therefore, association of polymorphism of proteosomal genes with type II diabetes mellitus is of particular interest. In this study, molecular markers of the proteasomal alpha subunit 6 gene PSMA6 and its adjacent genomic sites have been analyzed.The goal of this study was to characterize polymorphisms of the HSMS801, HSMS702, ...

Introduction: Nesidioblastosis is a rare but well recognized disorder of persistent hyperinsulinemic hypoglycemia in infancy, but adult-onset nesidioblastosis associated with hyperinsulinemic hypoglycemia, termed noninsulinoma pancreatogenous hypoglycemia syndrome (NIPHS) has also been reported. These patients experience predominantly postprandial hypoglycaemia instead of fasting hypoglycaemia that characterizes insulinoma. Histological findings are islet hypertrophy islet-cel...

Introduction: Maturity-Onset Diabetes of the Young (MODY) is a form of monogenic diabetes caused by mutations in islet-related genes characterized by early-onset and inheritance in an autosomal dominant manner. MODY accounts for 2 to 5% of all cases of diabetes. The clinical presentation is heterogenous. Our aim was to characterize clinical features of patients with MODY in our department.Methods: We retrospectively analysed MODY diabetes cases diagnosed...

IntroductionMaturity Onset Diabetes of the Young (MODY) affects 1–2% of diabetic patients. Subtype 5 (HNF1β mutation) is rare (~1% of all MODY subtypes) and extra-pancreatic manifestations are often present (chronic kidney disease (CKD), liver disease and/or genitourinary malformations).AimTo report and review confirmed MODY 5 cases in an Endocrinology Department.Meth...

Introduction Immune reconstitution therapies (IRT), which include antibody-based cell-depleting therapies targeting CD52+ (alemtuzumab) or CD20+ (rituximab, ocrelizumab) leukocytes, are approved for the treatment of multiple sclerosis. Thyroid autoimmunity is a common adverse effect of alemtuzumab treatment, Graves' disease being the most prevalent manifestation. To date, thyroid autoimmunity events have not been reported with CD20 targeting monoclonal a...

Background: Craniopharyngioma is a benign tumour involving the hypothalamic and pituitary regions that are involved in the production and secretion of oxytocin. Research has shown that dysfunction of the oxytocin system is associated with neurobehavioural and metabolic outcomes, but less is known for its role in patients with craniopharyngioma, largely due to varied study designs and heterogenous methods of assessing the oxytocin system. This systematic review...

Introduction: The existence of clear differences between the biological course and clinical behaviour of minimally invasive (MI) and widely invasive (WI) follicular thyroid carcinomas (FTC) is still debatable. The present study was conducted to outline the clinical differences between MI and WI-FTC and evaluate outcomes in both tumors.Methods: We conducted a retrospective cohort study involving 80 cases of FTC. The comparison between MI-FTC and WI-FTC in...

Introduction: Pheochromocytomas are adrenomedullary catecholamine-secreting tumors. These account for <0.1% of all causes of hypertension and may be related to potentially fatal hypertensive crises. Can appear as sporadic tumors or associated with familial syndromes.Malignancy occurs in 15–20% of the cases and is characterized by local invasion or distant metastasis rather than capsular invasion. Tumor recurrence has been reported with a frequen...