Endocrine Abstracts

Introduction: Steroid cell tumors are rare ovarian sex cord-stromal tumors with malignant potential comprising <0.1% of all ovarian tumors. A subtype called not otherwise specified (NOS) accounts for approximately one-half of all ovarian steroid cell tumors. The average age of presentation is 43 years, with androgenic clinical features in 56–77% of cases.Case report: A 21-year-old female, on liver transplantation waiting list due to Niemann&#150...

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...

Addison’s disease (AD), also known as primary adrenal insufficiency, is caused by destruction or dysfunction of the adrenal cortex, resulting in hypocortisolism. The usual clinical features of chronic AD are non-specific and include fatigue, nausea, vomiting and hyperpigmentation. We describe the case of a 58-year-old African black male with AD presenting with recurring severe hypoglycaemia. The patient was admitted several times to the emergency department with hypoglyca...

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...

Pseudohypoparathyroidism (PHP) is a rare group of genetic disorders characterised by end-organ resistance to parathyroid hormone (PTH). We describe the case of a 34-year-old Caucasian female with severe hypocalcaemia presenting with a first generalised seizure. Her medical history was significant for bilateral cataract. She had three healthy children, and no family history of note. On examination, she had positive Chvostek’s sign. Biochemical analysis showed serum calcium...

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...

POEMS syndrome characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes is a rare disease that usually presents in the 6th decade. We report a case of a young male in whom the presenting manifestations were mandibular mass, adrenal insufficiency and peripheral polyneuropathy. Clinical case: A thirty-three year old man from Guinea-Bissau was admitted to our hospital with asthenia, weight loss, decreased tactile sensibility with pain ...