Endocrine Abstracts

Gaucher disease (GD) is autosomal recessive lysosomal storage disorder caused by the deficiency of glucocerebrosidase with consequent massive acumulation of lipid-laden macrophages in various tissues. Estimated life expectancy is about 9 years shorter than for the reference population. Mortality due to macrovascular diseases is higher, and probably associated with metabolic abnormalities found in GD type 1 patients, including decreases in serum adiponectin levels. Because adip...

Introduction: Several population-based studies have shown that hyperinsulinemia and insulin resistance could be an independent predictive factor for development of coronary artery disease (CAD).Aim: The aim of this cross-sectional study was to analyze insulin secretion in patients with proven coronary artery disease.Methods: We have analyzed 151 consecutive patients (35–79 years old, men 68%, women 32%) referred for coronary a...

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...

Somatostatinomas are rare neuroendocrine tumors of the pancreas and small intestine that can occur sporadically or in a syndromic form. Duodenal somatostatinomas are often associated with neurofibromatosis type1 (NF1). Their presenting features are mostly related to local effects of the tumor mass rather than functional clinical syndrome. Nesidioblastosis is extremely rare cause of persistant hyperinsulinemic hypoglycaemia in adults.We present a case of ...

A 25-year-old female, referred because of left hemianopsy, weight gain, fatigue, muscle weakness, and secondary amenorrhea. Physical examination revealed overt Cushingoid features and left temporal hemianopsy. Previously the diagnosis of pituitary macroadenoma (MRI) with suprasellar, infrasellar, and right parasellar propagation was made in regional hospital. Laboratory results showed moderate hypercalcemia with hypophosphatemia and hypercalciuria with inappropriately normal P...

Objectives: Besides well known increased adrenal androgen production, an enhanced peripheral cortisol metabolism was also observed in polycystic ovary syndrome (PCOS). This could induce a compensatory rise of ACTH secretion, tending to maintain normal plasma cortisol concentration at the expense of adrenal androgen excess. On the other hand, obesity is associated with a hyperactivity of the hypothalamic–pituitary–adrenal (HPA) axis and impaired androgen balance. In t...

Objectives: It is well known that polycystic ovary syndrome (PCOS) can promote metabolic syndrome (MetSy) and consequently cardiovascular diseases (CVD). In this study we compared indices of MetSy and 10-year cardiovascular risk (CVR10) based on Framingham risk scoring system (FRSS) in young obese PCOS women and healthy obese controls.Methods: We studied 25 obese women with PCOS (mean age: 29.55±4.6 years, mean BMI: 31.8±4.4 kg/m<sup...

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...