Endocrine Abstracts

Case history: A 23-year-old Caucasian nurse presented with six months of frequent recurrent symptomatic hypoglycaemic episodes with capillary blood glucose ranging between 1.2 and 3.5 mmol/l and symptoms improving after a carbohydrate snack or a drink. The episodes were more likely to occur during fasting state and after excess physical activities. A careful history excluded intake of any off-prescription medications, dfrugs or psychosocial problem.Inves...

Introduction: We present a rare cause of hypoparathyroidism and hypocalcemia and implications of the same during pregnancy.Case report: A 22-year-old primigravida was referred to the antenatal endocrine clinic with a longstanding history of hypoparathyroidism with hypocalcaemia. She had short stature and extended digits relative to her height. She has been taking alfacalcidol 0.5 μg once a day and adcal D3 tablets and blood tests revealed low normal...

Waterhouse–Friderichsen Syndrome is adrenal gland failure due to adrenal haemorrhage. It is an uncommon but usually life-threatening condition, which can be one of the serious complications of severe sepsis. Clinical manifestations of adrenal haemorrhage can vary widely depending on the degree and rate of haemorrhage. Adrenal haemorrhage may result from trauma, sepsis, anticoagulation medication, coagulopathy, autoimmune conditions, underlying tumour or idiopathic disease...

Background: Primary Hyperparathyroidism - Jaw tumour (HPT-JT) syndrome is an autosomal dominant disorder characterised by hyperparathyroidism and ossifying jaw fibromas. Inactivating germline mutations in CDC73 gene (previously known as HRPT2) is the main cause of this syndrome. There is higher incidence of parathyroid carcinoma in these individuals and also an association with other renal lesions have been described. We report a case of HPT-JT syndrome with mutation in the ex...

Background: Bloom’s syndrome is a rare autosomal recessive disorder due to chromosomal instability. It is associated with endocrinopathies such as growth deficiency, insulin resistance, type 2 diabetes, dyslipidemia and hypothyroidism. We present a case to highlight the challenges in management of diabetic emergencies in patients with complex syndromes.Case report: A 38-year-old male of Asian descent known to have Bloom’s syndrome presented to ...

Background: Genetic causes of hypocalcaemia can be overlooked in patients presenting without apparent syndromic features. One such example is DiGeorge syndrome, which is often diagnosed in childhood but rarely in adulthood.Case presentation: A 21-year-old lady was referred to our endocrinology clinic regarding chronic hypocalcaemia (adjusted calcium 1.98 mmol/l). This was first diagnosed at the age of eight with no clear cause identified. Her past medica...

Background: Ectopic Cushing’s syndrome (ECS) is a rare and severe condition at times presenting acutely with intense hypercortisolism. The intensity of hypercortisolism can be disproportionate to underlying tumoral condition, and associated life-threatening complications are common arising suddenly. Hypercortisolism must be controlled rapidly pending definitive treatment of tumoral source to avoid life-threatening consequences.Case Summary: 31-year-...

A 25 year old lady was referred to the endocrine clinic after her newborn baby was noted to have respiratory problems, marked osteopenia and hypocalcemia. Further investigations on the mother showed corrected calcium of 1.11 mmol/L; however she was relatively asymptomatic. Reviewing her history in detail, she was born in Nigeria and moved to the UK 2 years prior to the presentation. She used to get intermittent cramps in her hands, legs and body since the age of 10 in addition...

Introduction: Thyrotoxicosis is one of the common referrals to the endocrine clinic. Management of the thyrotoxicosis depends on establishing the correct aetiology. The aim of the audit was to compare the management of patients with thyrotoxicosis against the guidelines proposed by the Royal College of Physicians.Methods: One hundred and two consecutive patients referred to outpatient endocrine unit in a University Hospital over 6 months were included. D...

Background: X-linked hypophosphatemia (XLH) is a rare, hereditary, progressive musculoskeletal disorder. Prompt diagnosis and treatment in childhood ensures adequate bone matrix mineralization and skeletal growth. There is no consensus on indications for treatment in adult patients.Case Presentation: A 25 year old female was referred to endocrinology with a right ankle fragility fracture. She was known to have XLH, diagnosed in Poland at the age of 1 yea...