Endocrine Abstracts

Introduction: Pheochromocytomas are catecholamine-producing tumors originated from the chromaffin cells of the adrenal medulla. Although usually sporadic, this tumors could be associated with germline mutations in about 40% of cases. TMEM127 has recently been identified as a novel gene conferring increased susceptibility to pheochromocytoma.Case report: A 42-year-old woman was referred to our Hospital to perform a right adrenalectomy for pheochromocytoma...

Introduction: Performance-enhancing drug (PED) use is currently a common practice both inside and outside the sports competition scenario, and its adverse health effects remain underappreciated.Case report: We report the case of a 26-year-old man, bodybuilding practitioner, no relevant medical history, family history of autoimmune disorders. Referred to the emergency room with polydipsia, polyuria, blurred vision associated with a post-prandial capillary...

Introduction: Dapagliflozin is an oral antidiabetic drug, recently approved for type 2 diabetes and is a sodium-glucose cotransporter type 2 inhibitor (iSGLT2). Its mechanism of action is glycosuria induction, associated with lowering glycemia. The effects of SGLT2 inhibition are insulin-independent, and efficacy is not affected by declining β-cell function or insulin resistance. Additional benefits: weight loss, reduction in blood pressure, lower inciden...

Background: The diagnosis of Cushing’s syndrome (CS) remains a challenge in clinical endocrinology. Several screening tests have been proposed to establish hypercortisolism. Late-night salivary cortisol (LNSC) is used as screening tool, however, individualized cut-off levels for each population must be defined.Methods: Three group of subjects were studied: healthy volunteers, suspected CS and proven CS. All patients collected saliva at 23.00 h using...

Introduction: MEN1 is a rare autosomal dominant syndrome typically characterized by neoplastic lesions of parathyroid glands, anterior pituitary gland and endocrine pancreas. Several other tumours are associated with this syndrome, including adrenal lesions, but their prevalence and clinical characteristics (endocrine secretion and aggressiveness) are largely unknown.Objective: To determine the prevalence, clinical characteristics and the possible genoty...

Introduction: Glycogen storage disease (GSD) type Ia (von Gierke’s disease) is an inherited metabolic disorder of glycogen metabolism, caused by defects in the glucose-6-phosphatase complex, with associated risk of severe hypoglycemia within 3–4 h after a meal.The aim of the present study was to evaluate the efficacy of continuous glucose monitoring (CGM) system in determining the magnitude of hypoglycemia in patients with GSD type Ia.<p cl...

Introduction: Woodhouse-Sakati Syndrome (WSS) is a very rare autossomic recessive disorder caused by mutations in DCAF17 gene that primarily affects the endocrine and the nervous systems. It is associated with hypogonadism, diabetes mellitus, hypothyroidism, sensorineural hearing loss, alopecia and extrapyramidal findings. Treatment is symptomatic and managed by multidisciplinary teams. Less than 80 cases are reported to date.Case repor...

Introduction: Insulinomas are the most frequent cause of endogenous hypoglycaemia. 90 to 95% of these are benign. Surgical enucleation or resection is the standard treatment. Medical therapy focuses mainly on the use of diazoxide with few alternatives in patients with high surgical risk.Case-report: Female patient, 89 years-old, non-diabetic, with previous history of acute myocardial infarction, stroke with motor sequelae, pacemaker carrier and severe ao...

Introduction: Evidence implicates oxidative stress as mediator of diabetic complications. Furthermore, glucose variability (GV) is associated with oxidative stress and inflammation; however, association between GV and diabetes complications remains to be established. Our aim was to assess GV in patients with and without microvascular complications (MVC).Methods: We analysed 2454 and 6593 h of continuous glucose monitoring of patients with type 1 diabetes...

Introduction: Radioiodine (131I, RAI) is a safe and effective option for the treatment of Graves’ disease (GD). However, approximately 20% of RAI treated patients will have persistent disease or will relapse after the first treatment. Our aim was to identify the factors influencing the outcomes in RAI treatment for GD.Methods: We analysed 143 DG patients (116 women) treated with RAI between October 2002 and April 2014 and ≥12 months...