Endocrine Abstracts

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...

Introduction: Cushing’s syndrome is rare during pregnancy perhaps because hypersecretion of glucocorticoids supresses pituitary gonadotrophin secretion resulting in subfertility. When present, the syndrome is usually due to adrenal disease and less commonly to pituitary adenomas or ectopic ACTH production. In the contrary, Cushing’s syndrome outside pregnancy is usually due to pituitary adenomas whereas non ACTH-dependent Cushing’s is less frequent.<p class=...

Background: Carcinoid tumours of colon and rectum (CTCR) are a rare entity. A review of a tertiary referral units experience is presented.Aim: Reviewing our experience of CTCR with emphasis on tumour site, disease stage, treatment and long term outcome.Method: Retrospective analysis of our endocrine tumour database was performed. All patients diagnosed with CTCR between 2000 and 2009 were included.Findings: T...

Introduction: Pituitary hormones play a vital role in the development of various organs since birth. Testosterone is essential not only for the development of primary and secondary sexual characteristics but also influences erythropoiesis. We describe a clinically challenging case of hypopituitarism presented as normochromic normocytic anaemia at the age of 74 years.Case: A 74 years gentleman with a background of previous Myocardial Infarction was referr...

Case report: A 76-year-old lady was referred to our Endocrinology department due to general malaise and abnormal thyroid function tests: TSH 1.1 (0.3–4.2) mU/l, fT4 30.6 (12.0–23.0) pmol/l, fT3 8.3 (4.0–7.8) pmol/l. She had received 131I twice, 16 and 36 years previously, at different hospitals for presumed thyrotoxicosis. She was clinically euthyroid and had a small diffuse goitre.Repeat thyroid function t...

Adiposity predisposes to insulin resistance and type II diabetes. Adipose tissue is an active endocrine organ, secreting adipokines with important physiological actions. Adiponectin is a recently discovered adipokine whose levels are, paradoxically, decreased in obesity despite the increase in adipocyte mass. Adiponectin suppresses triglyceride accumulation, increases fatty acid oxidation and activates AMP kinase (AMPK) in skeletal muscle, improving insulin signalling, and it ...

A 52 year old lady was admitted with collapse in May 2001 with h/o being nauseous, generally unwell, off her feet and food for several weeks. GP consultation five weeks before, for similar complaints, resulted in thyroid function tests confirming hypothyroidism. Thyroxine 25 mcg was commenced by the GP and uptitrated to 50 mcg. She however deteriorated despite this treatment becoming increasingly lethargic and sleepy. On admission she appeared tanned, BP was 93/50 she was dysa...

A 44-year-old gentleman known to have adult polycystic kidney disease with chronic renal failure was found to be profoundly hypothyroid in predialysis assessments in the renal clinic. He was symptomatic feeling tired and generally unwell with multiple problems, which were initially all attributed to his renal failure. Investigations of his thyroid by ultrasound revealed two nodules in the left lobe and one nodule in the right lobe of the thyroid. FNAC failed to differentiate b...

Road traffic accidents resulting in traumatic brain injuries are increasingly common. Patients are often males in their third decade. Many of these patients persist to have various symptoms even after recovery from the acute phase, which tend to be diagnosed as post concussion syndromes. Interest has increased of late in Post traumatic hypopituitarism. We report two patients with head injuries with endocrine insufficiencies.A 21 year male was hit by a ca...