Endocrine Abstracts

Introduction and aim: Obesity epidemic contributes to the increasing prevalence of high blood sugar, high blood pressure, and dyslipidemia, which are all known risk factors for coronary artery disease (CAD). Metabolic syndrome (MS) describes the common clinical finding wherein component CAD risk factors cluster within a single patient. Since obesity shares common clinical characteristics with both metabolic syndrome (MS) and Cushing’s syndrome it is speculated about obeso...

Background: Narcolepsy is hypersomnia of central origin whose clinical features are excessive daytime sleepiness, hypnagogic hallutinations, sleep paralysis and cataplexy which comprises sudden transient loss of muscle tone often triggered by emotions. Narcolepsy with cataplexy is assiociated with hypocretin 1/orexin-A (HCRT 1/ORX-A) deficiency in central nervous system. Because of the link between ghrelin and HCRT 1/ORX-A wake-promoting effects there might be ghrelin deficien...

Background: Glucocorticoids (GCs) have an important modulatory influence on immune system. GCs accomplish their effects on target tissue through binding to the glucocorticoid receptor (GR). Alterations in glucocorticoid signaling due to polymorphisms of the GR gene may have an impact on the pathophysiology of autoimmune disorders.Aims/methods: We examined the presence of BclI, N363S, A3669G and ER22/23EK GR gene variants in patients with autoimmun...

Single nucleotide polymorphisms in the glucocorticoid receptor (GR) gene influence tissue sensitivity of GR. Several studies have shown different effects of BclI GR polymorphism on body composition and metabolic parameters. The objective of this study was to explore the effect of BclI GR polymorphism on the body composition and glucose metabolism. Biochemical tests and hormonal evaluation were performed in 106 consecutive women with adrenal incidentalomas (AI...

Clear renal cell carcinoma (ccRCC) is a highly vascularized and proliferative tumor. ccRCC can be sporadic or familiar, usually associated with von Hippel-Lindau (VHL) gene mutations. VHL protein is part of the E3 ubiquitin ligase complex that regulates hypoxia-inducible factor (HIF). When a defective and inactive VHL protein is produced, HIF is not degraded, resulting in over-expression of hypoxia related genes including erythropoietin (EPO) and vascular endothelial growth fa...

The clear cell renal cell carcinoma (ccRCC) can be sporadic or familiar, with the mutated von Hippel-Lindau (VHL) gene. The inactive VHL protein prevents degradation of hypoxia inducible factor (HIF) that promotes overexpression of angiogenic factors such as vascular endothelial growth factor (VEGF) and erythropoietin (EPO). Sequencing and multiplex ligation-dependent probe amplification (MLPA) of VHL gene in 43 samples of ccRCC in tumors vs surrounding healthy tissues reveale...

Background: Ret protooncogene germ-line mutations are associated with the inherited multiple endocrine neoplasia type 2 syndromes (MEN2a and MEN2b) and also with familial medullary thyroid carcinoma (FMTC). In this study, we report a large scale of mutations in exon 10, 11, 13 and 14 RET protoocogene in patients from Serbia. Our study included patients with MTC.Methods: Our study included 180 patients. Patients were tested for RET protooncogene mutations...

Background: Several polymorphisms of glucocorticoid receptor (GR) gene, including BclI, N363S and ER22/23EK, which may have an influence on glucocorticoid sensitivity, have been reported. BclI and N363S polymorphisms have been associated with clinical characteristics of increased and ER22/23EK of decreased glucocorticoid (GC) effects. On the other hand, metabolic syndrome has been described in patients with adrenal incidentalomas.Objective ...

Interindividual variations in tissue sensitivity to glucocorticoids (GC) have been partly attributed to polymorphisms in the glucocorticoid receptor (GR) gene. The aim of this study was to investigate whether BclI variant of the GR gene may contribute to metabolic abnormalities frequently present in patients with adrenal incidentaloma (AI). Biochemical tests and hormonal evaluation were performed in 106 consecutive women with AI. Non-diabetic patients underwent an ora...

To investigate the prevalence of SH and osteoporosis in female patients with unilateral AIs (UAIs) and bilateral AIs (BAIs).We enrolled 106 female patients, 68 (64.2%) with UAIs and 47 (35.8%) with BAIs. SH was diagnosed in the presence of serum cortisol levels after 2-day low-dose dexamethasone suppression test (LDDST) >50 nmol/l with at least one of the following parameter (midnight serum cortisol >208 nmol/L, 24-h urinary free cortisol >24...