Endocrine Abstracts

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...

Introduction: Glucocorticoid resistance syndrome (GRS) is a rare familial or sporadic condition, caused by mutations in glucocorticoid receptor gene. It is characterised by generalised partial resistance of target tissues to cortisol action and compensatory elevation of ACTH with subsequent hypersecretion of cortisol, mineralocorticoids and androgens. Its clinical spectrum is broad and it may occur with high blood pressure (HBP) metabolic alcalosis, hypokalaemia and virilisati...

Introduction: The usefulness of acute octreotide suppression test (OST) in the selection of patients with acromegaly for chronic somatostatin analogues (SA) treatment is still controversial.Aim: To investigate the predictive value of OST for long-term responsiveness to long-acting SA.Materials and methods: Retrospective study of 25 drug-naive patients (13 males) with active acromegaly, subjected to an OST (hourly serum GH concentra...

Introduction: Giant prolactinomas are rare pituitary tumours, more frequently found in men (9:1), defined by an unusually large size (>4 cm), significant extrasellar extension and prolactin levels above 1000 ng/ml. Although dopamine agonists (DA) are the first-line treatment, combined therapy with DA and surgery, or rarely radiotherapy, may be necessary particularly when tumour volume control is not achieved.Case presentation: A 60-year-old woman, wa...

Introduction: Pituitary adenomas represent 95% of all sellar masses. Spindle cell oncocytoma (SCO), a rare histopathological entity (0.4% of all sellar tumours), clinically presents as a non-functional pituitary adenoma. According to WHO 2016 Classification of Tumours of the CNS it is a Grade l tumour, but prognosis remains uncertain since recurrence is frequently seen among the few cases reported.Clinical case: A 59 year-old man presented with progressi...

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: somatostatin analogs (SSA) are largely prescribed in acromegalic patients, whether as adjuvant or primary therapy. Response is variable and seems dependent of histological subtype. Intensity T2 signal in MRI has been related to granulation patern and accordingly with response to SSA.Objective: To evaluate whether T2 MRI signal is correlated with effectiveness of SSAMaterial and methods: Retrospective analysis of acrom...

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...