Endocrine Abstracts

Chronic hypophosphatemia (HP) can be observed among patients (pts) evaluated and treated for osteoporosis, but its prevalence and management are poorly defined. In this study we analyze prevalence, clinical features and diagnostic workup for chronic HP among pts attending a third-level osteoporosis office. Chronic HP was defined as serum phosphate levels persistently < 2.7 mg/dl over a period ≥ 6 months. Tubular reabsorption of phosphate (TRP) was measured and, in pr...

Introduction: Glucagon stimulation test is one of the recommended growth hormone provocation tests for diagnosing growth hormone deficiency in children. In adult patients, recent data showed that glucagon administration is able to stimulate the release of copeptin, the stable C-terminal glycopeptide of the AVP prohormone whose evaluation during hypertonic saline infusion represents the gold standard for the differential diagnosis of polyuria/polydipsia. However, similar data o...

Background: Hypophosphatasia is a rare genetic disease with low serum alkaline phosphatase (ALP) activity and hypophosphatasemia. It is caused by loss-of-function mutations and deletions of the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP) gene; it has a wide range of severity in its phenotype, from death in utero to asymptomatic disease accidentally diagnosed in adult life. Furthermore, some diseases and drugs may induce hypophosphatasemia. Thus, the ...

Introduction: The effects of testosterone on coagulation have not yet been clarified. In particular, it is still controversial whether male hypogonadism, or testosterone replacement therapy (TRT), may slightly increase the risk of venous thromboembolism, in particular during the first months of therapy. This study aimed to assess the hemostatic balance in hypogonadal men before and after short-term TRT, compared to healthy controls.Methods: Thrombin gene...

Background: Patients with Cushing’s Syndrome (CS) have a high risk of venous thromboembolism (VTE) related to a hypercoagulable state. Previous studies showed increased levels of procoagulant factors but also an elevation of some of the anticoagulants factors and fibrinolytic enzymes. Once patients achieve disease remission, there is a significant decrease of some procoagulant factors but if these alterations are completely reversible is still unclear. Compared to tradit...

Introduction: Endogenous hypercortisolism is associated with cardio-metabolic complications and promotes the deposition of lipids in different tissues, particularly in the liver. However, the prevalence of hepatic steatosis in patients with Cushing’s syndrome (CS) has been little investigated so far and only one previous study reported a prevalence of 20% using computed tomography. The aim of the study is to evaluate the prevalence of hepatic steatosis and the organ-speci...

Klinefelter syndrome (KS) is a frequent form of male hypogonadism that may be associated with a series of comorbidities potentially affecting quality of life and survival. As a matter of fact, KS was shown to negatively impact skeletal health. However, the studies so far published on this topic were mainly focused on evaluation ofbone mineral density (BMD) and bone microstructure, whereas data on fracture risk are still lacking. In this cross-sectional study, we evaluated for ...

Background: Pituitary tumors are mostly sporadic, but in less than 5% of cases they can be associated to genetic syndromes, so harbouring germline mutations. Familial pituitary tumors are often more aggressive, so it’s important to detect them, for both a better early diagnosis and genetic counselling. Before the development of Next-Generation Sequencing (NGS), Sanger sequencing was the most widely used method of DNA sequencing. Therefore, DNA samples were analysed follo...

Introduction: Hypotonic hyponatremia is frequently observed after pituitary surgery. In this context, use of vasopressin V2-receptor antagonists is not standardized. The aim of this retrospective study is to explore the role of Tolvaptan in the management of acute hyponatraemia after pituitary surgery.Methods: We collected clinical, safety and efficacy data of patients treated with Tolvaptan after pituitary surgeryin our Centre between April 2011 and Feb...

Introduction: Klinefelter syndrome (KS) is known to be associated with an increased risk of venous thromboembolism and arterial thrombosis, but the aetiology behind this prothrombotic status has not been fully elucidated. The aim of this study was to cross-sectionally investigate the coagulative state in subjects with KS compared to age-matched healthy males.Methods: Coagulation factors assessment, clinical characteristics collection and thrombin generat...