Endocrine Abstracts

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: 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: Primary hyperaldosteronism (HAP) is the main cause of secondary hypertension, with a prevalence estimated between 6 and 20% in resistant hypertension. Clinical suspicion is critical, especially if aldosterone-to-renin ratio (ARR) >25, however the diagnosis is dependent on confirmatory evidence, including aldosterone suppression tests.Methods: Retrospective evaluation of 44 patients with suspected PAH, identified betwee...

Introduction: Glutamic acid decarboxylase (GAD65) is expressed by pancreatic beta cells and also by GABA (gamma-aminobutyric acid)-secreting neurons. Cerebellar ataxia associated with anti-GAD65 antibodies (antiGAD Ab) is a rare neurological disorder that frequently coexists with other autoimmune conditions, namely Diabetes Mellitus (DM).Case reports: We describe two cases of ataxia associated with antiGAD Ab. The first case is a 69-year-old obe...

Introduction: In most cases, adrenal incidentalomas are non-functioning adrenocortical adenomas, but may also represent conditions in which therapeutic intervention is essential, such as pheochromocytomas, even with low index of suspicion.Case reports: Case report 1. Fifty-three-year-old male with history of arterial hypertension (HT), type 2 diabetes Mellitus and myocardial infarction, with a right adrenal incidentaloma found in abdomi...

Introduction: Pituicytoma is a low-grade glioma of the suprasellar and sellar regions that is rarely described (about 60 cases described in the literature). The clinical, laboratory and neuroradiological findings are not pathognomonic, and therefore definitive diagnosis is only possible after surgery and histopathological study. Total resection is the treatment of choice, since subtotal removal can often lead to recurrence or progression.Case report: We ...