Endocrine Abstracts

Introduction: Thyroid Storm is a rarely occurring severe form of hyperthyroidism, almost always brought about by precipitating event. It occurs more frequently with Grave’s disease. The mortality varies from 20 to 50%. The diagnosis of thyroid storm is mainly clinical along with abnormal thyroid hormone levels. We report a case of thyroid storm with chorea as one of its manifestation.Case report: A fifty year old lady was referred to us for recent o...

Aims: To assess the prevalence, investigations and management of hyponatraemia in hospital inpatients (previously deemed inadequate) over a 2-week period (1–15 May 2013) and compare with data collected in 2011, following the introduction of updated clinical guidelines in our trust.Methods: Hospital notes and electronic records of all patients with a sodium level of <130 mmol/l were analysed.Results: 43/255 (17%) patients h...

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...

Aims: To look at the demographics, biochemistry, treatments used, clinical characteristics associated with radioiodine (RI) treatment (including those with relapse) for thyrotoxicosis in our Endocrine clinic.Methods: Electronic records of all thyrotoxic patients between 2010 and 2012.Results: 144 patients, mean age 56 years (114 females)–106 Graves, 24 toxic adenoma (TA) and 14 multi nodular goitre (MNG). TPO antibody was posi...

Introduction: Pendred syndrome is a rare autosomal recessive condition characterised by sensorineural deafness, goitre and impaired iodine organification. We report a case of a 43-year-old female who presented with hearing impairment, and the development of a multinodular goitre with tracheal compression. Perchlorate testing and genetic studies confirmed a diagnosis of Pendred syndrome. She subsequently underwent partial thyroidectomy and requires lifelong follow-up.<p cla...

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: Knowledge of glucocorticoid use during acute illness is widely known, however, knowledge of Diabetes Insipidus (DI) is suboptimal amongst healthcare professionals. In 2009, a series of medical and management failures led to the death of 22 year old from DI in a London hospital. Since then increased efforts have been made to raise awareness about the inpatient management of DI and dangers associated with delay and/or omission of desmopressin. An NHS England patient ...

Case: A 25-year-old lady was incidentally found to have hyponatremia while she was investigated for painful left ankle and hand swelling. At the time of review in endocrine clinic, she was completely asymptomatic. Her menstrual period was normal. On examination she was found to be hypertensive with consistent blood pressure of 188/110. Rest of the systemic examination was unremarkable. Investigations revealed biochemical findings consistent wi...

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...