Endocrine Abstracts

Radioiodine refractory differentiated thyroid cancer can be effectively treated with multi-tyrosine-kinase inhibitors (mTKI). Due to their pleiotropic mechanism of action, these drugs may cause different side effects. Hypocalcaemia has been reported in up to 35% of patients treated with mTKI, but little is known about its pathophysiology and clinical relevance. We report the case of a 78 years old woman treated for a multifocal papillary thyroid cancer, infiltrating perithyroi...

Introduction: Zellweger Spectrum Disorders, one of the two groups of Peroxisome Biogenesis Disorders (PBD-ZSD) are rare, complex autosomal recessive genetic anomalies characterised by mutations in any of the PEX genes which are responsible for defective peroxisomes activity. The peroxisomes are organelles that play a primary role mainly in the lipid metabolism of almost all the cells of the body, hence their defective biosynthesis, assembly or biochemical functions turn PBD-ZS...

Background: The 1 mg overnight dexamethasone suppression test (ONDST) is recommended for the differential diagnosis of Cushing’s syndrome and the investigation of adrenal incidentalomas. However, diagnostic performance of the test relies on accurate methods to quantitate cortisol in serum. Although the variable performance of serum cortisol immunoassays has been well-documented, little has been published on their performance following the ONDST.Aims...

Background: In the last decades, the clinical profile of PHPT in Western Countries has changed from a highly symptomatic to a largely asymptomatic disease. However, a substantial stability in its clinical features has been reported in the last two decades. The usual management, including time to diagnosis and treatment, of PHPT during the Covid-19 pandemic has been changed and likely slowed down. Whether further changes in the clinical presentation of PHPT have occurred during...

Background: Diabetic retinopathy (DR) is one of the most common complications resulting from uncontrolled diabetes mellitus (DM). DR is the leading cause of blindness and low vision. DR is usually diagnosed at an advanced stage, so despite the individual treatment, it is only possible to slow down the progression of DR. Therefore, new potential biomarkers are needed for an earlier DR prognosis to prevent the development of DR. According to the latest studies, ubiquitin-proteas...

A 36-year-old Caucasian male was referred in November 2021 to our clinic, for investigations regarding his recent genetic diagnosis of congenital hyperinsulinism, revealed by genetic testing, performed after the birth of couple’s second child presenting with recurrent hypoglycemia.The female newborn diagnosed with fetal macrosomia (birth at 38 weeks, 4.3 kg), required follow-up and further examinations.A massive parallel sequencing on panel of 4867 genes using Roche platf...

Introduction: The classical triad of pheochromocytoma comprises paroxystic headache, palpitation, and diaphoresis. It is a common cause of secondary hypertension. Glycemic abnormalities are not rare. Hyperglycemia and diabetes can be the presenting features of pheochromocytoma. However, cases of hypoglycemia are also described. Malignant tumors account for about 10% of cases.Case description: In this report, we present a case of a 41-year-old man referre...

Background: Prolactinomas (PRL) are pituitary adenomas mainly characterized by hyperprolactinemia. In addition to the endocrine effects of prolactin, metabolic alterations have been described in PRL patients. Changes in inflammatory parameters have recently been identified in pituitary adenoma patients. Since both, metabolic (MM) and inflammatory markers (IM) showed promising results in characterization/prognosis of tumor patients, it is tempting to speculate whether those mig...

Introduction: Acromegaly is a rare, challenging disease that if not appropriately treated can lead to numerous complications. Some of the most frequent complications are cardiovascular (hypertension, secondary cardiomyopathy, arrhythmias, valvulopathies, heart failure) and metabolic (secondary diabetes, various alterations of the lipid metabolisms). Aim: The aim is to asses the impact of long-term acromegaly on the cardiovascular system and glucide and l...

Introduction: Pregnancy results in a significant change in pituitary gland size and function.Due to this physiological adaptation, management of pituitary adenomas during pregnancy represents a particularly complex challenge. Aim of this study was to focus on a single referral institution experience with special attention to this subgroup of patients: pregnant woman affected by pituitary adenoma.Materials and methods: This is a des...