Endocrine Abstracts

Introdution: Pituitary apoplexy (PA) is a rare clinical syndrome caused by sudden hemorrhage or infarction of the pituitary gland. PA may be the form of presentation of a pituitary tumor or occur during follow-up of a previously diagnosed macroadenoma. A high suspicion índex is required to establish a timely diagnosis.Case report: A 54-year-old man was referred to Endocrinology department (04/2015) due to a pituitary macroadenoma. He reported sexual...

Gitelman’s Syndrome (GS) is a rare autosomal recessive salt-losing tubulopathy of young adults, characterized by secondary hyperaldosteronism, hypokalemia, hypomagnesemia, hypocalciuria and metabolic alkalosis. It is caused by mutations in SLC12A3 gene. Hypercalcemia due to hypocalciuria in these patients is extremely rare and requires further evaluation.A 25-year-old normotensive female was referred to Endocrinology clinic for evaluation o...

Introduction: Barakat syndrome is a very rare disease and an uncommon aetiology of hypocalcaemia. Also known as HDR syndrome it is an autosomal dominant disorder characterised by hypoparathyroidism, sensorineural deafness and renal disease.Clinical case: A 59-year-old Caucasian woman was admitted to our Endocrinology ward in May 2014 due to hypocalcaemia despite being medicated with oral calcium. At 35 years old a diagnosis of hypoparathyroidism was esta...

Introdution: Prolactinomas in men are rare and the majority are macroadenomas. Some studies suggest that these tumors in men have higher proliferative activity and aggressiveness indicating gender-specific differences in biological behavior. Dopamine agonists (DA) are considered first-line therapy.Material/methods: Retrospective analysis of male patients diagnosed with prolactinoma between 2005 and 2016. Age at presentation, clinical, hormonal and image ...

Introduction: Bilateral macronodular adrenal hyperplasia (BMAH) is a rare aetiology of Cushing syndrome. Familial clustering suggests a genetic cause that was recently confirmed, after identification of inactivating germline mutations in armadillo repeat containing 5 (ARMC5) gene.Clinical case: A 70 years old female admitted due to femoral neck fracture in May 2014, presented central obesity, rubeosis and hypertension. Laboratory work up reveale...

Introduction: Familial hypocalciuric hypercalcaemia (FHH) is a rare genetically heterogeneous disorder, with 3 variants described. An inactivating mutation in the calcium sensor receptor (CASR) gene causes the subtype 1, which represents 65% of the cases.It is charaterised by hypercalcaemia and hypocalciuria with normal or elevated PTH. FHH is generally assymptomatic and treatment is not needed. Differential diagnosis with primary hyperparathyroidism (PH...

IntroductionSevere hyperandrogenism is a warning sign in young women. Differential diagnosis includes neoplastic, non-neoplastic and iatrogenic causes. The association of hyperandrogenism and congenital or acquired portosystemic shunt (PSS) has been rarely described, with its pathophysiology being unclear.Case 1A 22 year-old woman with diagnosis of autoimmune hepatitis, portal hypertension and PSS since 15 ye...

Introduction: Congenital hyperinsulinism (CHI) is a heterogenous disease caused by insulin secretion regulatory defects, being ABCC8/KCNJ11 the most commonly affected genes. It can present as focal or diffuse pancreatic disease, which is mainly determined by the genotype. Diazoxide is the first-line medication in diffuse cases, however many do not respond satisfactory. Second-line options include somatostatin analogues and surgery, which is curative in case of focal CHI.<p...

Introduction: Parathyroid adenoma is the most frequent cause of primary hyperparathyroidism (PHPT). In recent years minimally invasive surgical techniques have challenged the traditional bilateral neck exploration. There are different imaging techniques for preoperative location of parathyroid adenomas. In this study the authors review the role of Doppler ultrasound focusing on its safety, availability and affordability.Aim: To evaluate the role of Doppl...

IntroductionSARS-CoV2 infection can worsen glycemic control regardless of history of Diabetes mellitus (DM) and may precipitate new-onset diabetes (NOD). DM is also a risk factor for a greater severity of COVID-19. At-admission hyperglycemia (AH) is a known predictor of critical illness in other diseases.AimsAssess the impact of AH, regardless of the presence of DM, on the severity of COVID-19 inpatients....