Endocrine Abstracts

Genetic instability, i.e. loss of heterozygosity (LOH) and microsatellite instability (MSI) represent molecular disorders acquired by the cell during neoplastic transformation. Genetic instability is a frequent molecular event in thyroid pathogenesis, found at the early and the late stages of thyroid tumorigenesis. In thyroid neoplasms genetic instability was found in many chromosomal regions and is observed especially in cell-derived thyroid tumours. Alterations in PTEN loci ...

Introduction: Polycystic ovary syndrome (PCOS) and type 1 diabetes (T1DM) are accompanied by an increased risk of cardiovascular complications. The higher prevalence of PCOS in T1DM was reported and thus T1DM women with PCOS exhibit a higher risk of cardiovascular diseases. Soluble E-selectin (sE-selectin) and intercellular adhesion cell molecule-1 (sICAM-1) are considered as an early markers of atherosclerosis.Aim: We aimed to evaluate plasma levels of ...

Introduction: Thermogenesis constitutes an important part of energy expenditure and its disturbances may contribute to the development of obesity. The aim of this study was to investigate whether the expression of thermogenesis-related genes differs in adipose tissues of obese and normal-weight individuals and if methylation of CpG islands located in the regulatory regions of these genes is involved in this phenomenon.Materials and methods: The expressio...

Introduction: In Central Europe, vitamin D deficiency is common, and a very pronounced deficiency of this vitamin is observed in obese individuals. We hypothesized that the decreased serum concentration of vitamin D might be in part due to the changed metabolism of this vitamin in adipose tissues.Methods: We assessed the expression of vitamin D 25-hydroxylase genes CYP2J2 and CYP2R1 in adipose tissues of obese and slim patients using RT...

Background: Risk of developing papillary thyroid carcinoma (PTC), the most frequent thyroid malignancy, is elevated up to 8.6-fold in the first-degree relatives of PTC patients, what could be explained by polygenic action of low-penetrance alleles. Since the DNA-damaging exposure to ionizing radiation is a known risk factor for thyroid cancer, polymorphisms in DNA repair genes are likely to affect this risk. Among the DNA repair proteins, the ATM–CHEK2–BRCA1 axis see...

Introduction: The activating BRAFV600E is the most common genetic alteration in PTC. There is a common belief that it can correlate with a more aggressive clinical course. The mutation of the CHEK2 gene impairs the repair processes of the damaged DNA. It can be expected that the coexistence of both mutations can be related to a worse clinical course.Aim: To assess the prevalence of the coexistence of the CHEK2 and BRAFV600E mutation...

Introduction: Pheochromocytoma is a rare catecholamine secreting neuroendocrine tumor. We describe a rare case of Tako – Tsubo cardiomyopathy as first manifestation of pheochromocytoma, which later developed into PMC.Case report: A 39-year-old woman, with no history of arterial hypertension, was admitted to the emergency room with acute headache, severe chest pain radiating to the back, nausea and vomiting. At presentation, patient was in cardiores...

Introduction: Flash glucose monitoring (FGM) enables people with diabetes to regularly track their glucose levels without performing capillary finger-stick measurements (SMBG). Clinical studies have shown improvement in glycemic control, reduction of hypoglycemia, improvement in comfort and quality of life in people with type 1 diabetes (T1D) using this technology. In contrast to continuous glucose monitoring, FGM requires the performance of a scan to obtain the current glucos...

Background: Double pituitary adenomas are a rare entity, which requires clinical attention and a careful follow-up.Case report: A 37-year-old man presented with left-sided painful gynecomastia. He denied typical symptoms of excessive growth hormone (GH) secretion and did not show any acromegalic features. Due to low testosterone and LH levels with mild hyperprolactinaemia, the patient was referred to pituitary MR, which revealed an 11 × 13 mm right-...

Introduction: Cushing disease, as a state of chronic hypercortisolism, causes diverse, often nonspecific symptoms, possibly delaying the proper diagnosis.Case report: A 59-year-old woman with the history of type 2 diabetes mellitus, hypertension, osteoporosis and multiannual history of recurrent hospitalizations because of life-threatening multi-sited soft tissue and muscle abscesses, was admitted to the Department of Internal Medicine and Metabolic Dise...