Endocrine Abstracts

Introduction: Familial Hypocalciuric Hypercalcemia (FHH) is a benign autosomal dominant condition caused by an inactivating mutation on the gene coding for the Calcium Sensing Receptor (CASR). CASR plays a role in regulating parathyroid secretion and calcium metabolism. The majority of adults with FHH are asymptomatic. This is a case of three young brothers whose genetic tests shows two mutations in each of their CASR gene leading to hypercalcemia and varying symptoms.<p c...

Introduction: Hypertriglyceridemia is rare but associated cause of pancreatitis and accounts for 10% of cases. Hypertriglyceridemia induced pancreatitis may occur secondary to causes such as diabetes, pregnancy, hypothyroidism and obesity. Management of hypertriglyceridemia includes a change in dietary intake as well as lipid lowering agents, fenofibrates, statins and omega 3 fatty acids. To reduce the triglycerides acutely, intravenous heparin and insulin have been used. In t...

Introduction: Despite the commonality of hyponatraemia in everyday clinical medicine it is often a poorly management condition in acute medical patients. A European guideline for diagnosis and management was published in 2014 to address such problems.Aims: To assess the standard of management of patients with hyponatraemia admitted to the medical departments in a rural District General Hospital. To improve investigation, diagnosis, and management of thes...

A 73 years old gentleman with a diagnosis of mesothelioma presented with symptoms typical of hypoglycaemia. Other than the expected abnormal chest signs there were no significant examination findings.Capillary glucose was unrecordable; lab testing confirmed serum glucose of 0.9 mmol/l. He had no history of diabetes mellitus or any medication that may induce hypoglycaemia. There was a slight rise in CRP and white cell count was elevated. There was no clin...

A 17-year-old female was referred to the adult endocrine clinic with a history of primary amenorrhoea. She was short in stature with a height below the 4th centile for her age. Her BMI was 24 kg/m2 with a weight below the 25th centile and there was delay in bone-age 2 years.She had an interesting past medical history of late-onset central nocturnal hypoventilation from the age of 8 years when she presented with apnoeic episodes and weight gain...

An 18 year old lady was seen in endocrine clinic in October 2004 with 10 month history of polyuria, polydypsia and lethargy. Previous medical history includes Graves thyrotoxicosis which is treated with carbimazole.Clinical examination was unremarkable.Investigations and management: Urine osmolality −84 mosmol (250–750), serum osmolality −290 mosmol (288–298), full blood count, fasting glucose, renal, liver fu...

Introduction: Giant cystic phaeochromocytomas are an exceedingly rare variant of adrenal phaeochromocytomas. We report a case in an 83-year-old lady who initially presented with a swinging pyrexia, initially diagnosed as a hepatic abscess.Case report: An 83-year-old lady with a history of hypertension was admitted as an emergency with nausea and vomiting, dehydration and rigors. She was pyrexial and dehydrated; pulse 163 and BP 167/86. There were signs o...