Endocrine Abstracts

Background: Obesity and in particular visceral adiposity has been related to low bone mineral density (BMD) and greater fracture risk. Subjects with Prader–Willi syndrome (PWS) have lower amount of visceral fat than patients with simple obesity, however can develop osteoporosis. A strong relationship between inhibition of the osteoblast formation and induction of the adipocyte differentiation has been demonstrated. Inhibitors of osteoblastogenesis, such as Dickkopf-1 (DKK...

The GH response to standard provocative tests is significantly lower in adult patients with Prader–Willi syndrome (PWS) than obese controls with similar body mass index (BMI). Nevertheless, BMI is an inadequate measure of body composition in PWS, because PWS harbour a higher fat mass than simple obesity, under the same degree of weight excess. This study evaluated either the GH response to combined GHRH+arginine administration and the fat body mass, by dual energy X-ray a...

Irisin is a myokine involved in the browning of white adipose tissue and in the regulation of energy expenditure, glucose tolerance and insulin sensitivity. It was previously demonstrated that obese adults with Prader-Willi syndrome (PWS) harbor lower irisin levels than individuals with common obesity. Significant associations seem to relate irisin to muscle mass, REE, insulin resistance and triglycerides and also the strongest independent predictors of irisin levels were PWS ...

Introduction: Prader Willi Syndrome (PWS) is a genetic syndrome characterized by hyperphagia, morbid obesity, and many other endocrine alterations. PWS subjects present higher ghrelin levels. The cause of this increase as well as the modulation of ghrelin secretion at fasting and feeding in relation to other metabolic parameters in PWS is largely unknown. It has also been demonstrated that many ghrelin gene (GHRL) polymorphisms are associated with obesity, type 2 diabetes, and...

Introduction: Hypothalamic–pituitary anomalies are well proven in Prader–Willi syndrome (PWS). In this context, it has been previously reported that central adrenal insufficiency (CAI) may be part of the PWS phenotype. However, the diagnostics of CAI is critical and debated, due to the lack of fully reliable tests. Several studies have looked at the clinical usefulness of the low dose (1 μg) short Synacthen test (LDSST) compared to the conventional dose (250 &#9...

Background: Liver fibrosis is the result of the chronic hepatocyte damage due to different causes. Among them, Non-alcoholic Fatty Liver Disease (NAFLD) is estimated to account for nearly 30% of cases, representing a leading cause of chronic liver disease. NAFLD can evolve into non-alcoholic steatohepatitis, with or without fibrosis, whose diagnosis requires a liver biopsy, a costly and invasive procedure. Non-invasive tests have recently been proposed to screen patients at ri...

Hypothyroidism and autoimmune thyroiditis are common in patients with Down’ syndrome (DS), leading to common prescription of thyroid replacement therapy. On the other hand, thyroid function is involved in oxidative stress (OS) mechanisms. DS is a well-known high OS condition because several genes involved in OS mechanisms map on chromosome 21 and coenzyme Q10, lipophilic antioxidant, could be more correlated with hypothyroidism than TSH in DS people. To investigate relati...

Background: Real-time elastography (RTE) was reported to improve the diagnostic accuracy of B-mode ultrasound (US) examination of thyroid nodules but the results on selected series of patients are still controversial.Aim of the study: To blindly evaluate on a consecutive series of solid thyroid nodules, devoid of confounding factors, the diagnostic accuracy of RTE and to compare it with the traditional B-mode features.Materials and...

Introduction: The etiology of the increased mortality seen in Prader–Willi syndrome (PWS) is not completely known. In this context, it has been suggested that central adrenal insufficiency (CAI) due to hypothalamic dysfunction may be responsible for unexplained deaths. However, data on hypothalamic-pituitary–adrenal (HPA) axis in PWS are still conflicting. Because adrenal insufficiency is a life-threatening disease, its diagnosis should be precise, urgent and reliabl...

A 52-year man came to Emergency Department with Atrial Fibrillation with rapid ventricular response due to amiodarone induced thyrotoxicosis (AIT). The patient was found tachi-arrhythmic (153 beats per minute), tachypnoic (27 breaths per minute) and with intense hyperidrosis. His first blood test documented thyroid stimulating hormone (TSH) <0.01 mUI/l, free triiodothyronine (fT3) 20.0 pmol/l and free thyroxine (fT4) over 100 pmol/l. Thyroid ultrasonography revealed an enl...