Endocrine Abstracts

Background/aims: Gaucher disease (GD) is autosomal recessive lysosomal storage disorder caused by the deficiency of enzyme glucocerebrosidase (GCD) with consequent massive acumulation of lipid-laden macrophages in various tissues including liver. It has been shown that chronic diseases with liver involvement might cause IGF1 deficiency. The aim of the study was to assess the IGF1 system in adult patients with type 1 Gaucher disease with and without enzyme replacement therapy (...

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...

Neuroendocrine lung tumors represent approximately 20% of all lung tumors. They range from low-grade well-differentiated NETs and well-differentiated neuroendocrine carcinomas (typical and atypical carcinoids) to aggressive poorly differentiated small-cell and large-cell neuroendocrine carcinomas. They can develop different clinical syndromes due to ectopic hormone secretion.We analyzed 178 patients with neuroendocrine tumors (age range: 17–79 years...

Objectives: Insulin resistance and hyperinsulinaemia are implicated in the pathogenesis of the polycystic ovary syndrome (PCOS) in the majority of the cases. Adiponectin is adipose tissue-specific protein and its correlation with insulin resistance is well established. The aim of the study was to access the correlation between adiponectin and anthropometric and metabolic parameters in a group of women with PCOS.Methods: Thirty-one women with PCOS (age: 2...

Mutation Y791F of RET protooncogene is a well known mutation so far described in families with FMTC and familial pheochromocytoma in one family. It activates the receptor in a monomeric form. Here we present eight unrelated families with the same mutation but different fenotype expression.Patients and methods: In last 20 years, we analyzed 216 patients with MTC (age range: 3–75 years, 45.0 mean). Genetic testing for mutation in RET pro...

Polycystic ovary syndrome (PCOS) is a common reproductive endocrine disorder. The metabolic aspect of disorder is characterized by obesity-related risk factors for cardiovascular disease. The aim of this study was to determine in women with PCOS, indices of lipid metabolism and their oxidation, and to assess possible relation to insulin resistance. We investigated 75 women with PCOS (age: 23.1±5.1 years, body mass index (BMI): 24.9±4.7 kg/m2) and 56 age an...

We describe a 52-year-old woman, with acromegaly, clival chondroid chordoma, meningioma and lung carcinoid. There was no family history of MEN-1. She was diagnosed as acromegaly in 2000. Radiological evaluation (MRI) revealed pituitary tumor, however, another infiltration of scull base was detected which invaded sphenoidal and ethmoidal sinuses, lamina cribroza and bilateral orbit walls. Pituitary tumor was completely removed and the reduction of extra-sellar mass was performe...

The diagnosis of adult growth hormone deficiency (GHD) in patients with pituitary disease relies predominantly on provocative tests of GH secretion. The incidence of GHD in treated acromegalic patients has not been fully documented. Therefore, the aim of the present study was to elucidate GH response to insulin-induced hypoglycaemia (ITT, 0.15 IU/kg i.v.) in a cohort of 10 patients with acromegly considered cured solely by transsphenoidal surgery (6 females and 4 males, mean a...

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...