Endocrine Abstracts

Introduction: Prader Willi syndrome is a genetic disorder associated with learning disability, hyperphagia and obesity which leads to early development of obesity related complications. The weight and appetite management remains a challenge with not much success with appetite suppressant drugs and bariatric surgery.GLP-1 receptor analogues appear to be a promising alternative given their effect on appetite control, weight loss and HbA1c and were shown to...

Introduction: Pseudohypoparathyroidism is a rare group of heterogenous disorders. PHP1b consists of renal resistance to PTH in the absence of other physical or endocrine abnormalities and is associated with reduced 1,25-OH vitamin D synthesis, increased phosphate secretion and hypocalcaemia. Despite calcium and vitamin D replacement many patients still have chronically elevated PTH.Case description: A 31-year-old white female presented with symptoms of t...

TSHoma is rare, with an incidence of 1 per million, and <1% of all pituitary tumours. We reported a case involving a 49-year-old female who was first referred to our endocrine unit in 2006 with excessive lethargy and abnormal TFT’s. She was thought to have thyroid hormone resistance for several years until 2015 when she reported having persistent symptoms and further investigation suggested an alternative diagnosis.Results: Ft4=41.6 pmol/l, TSH=...

A 67 year old female presented with hypertension, oedema and cough. A CT scan of her abdomen showed an enlarged left adrenal gland. Urinary free cortisols were grossly elevated and low dose dexamethasone suppression testing confirmed Cushing’s Syndrome. 24 hour catecholamines were also elevated consistent with a diagnosis of phaeochromocytoma. ACTH levels were high (690 pg/ml) but pituitary MRI was normal. She was commenced on alpha and beta blockade in preparation for su...

Resistance to thyroid hormone (RTH) is a rare, autosomal dominant disorder characterised by a reduced sensitivity of peripheral tissues to thyroid hormone. Thyroid function testing shows elevation of free T4 and T3 with non suppressed TSH levels.Vascular function in these patients has not been fully evaluated. We have studied central arterial stiffness in a cohort of RTH patients, comparing them with age and sex matched controls.Me...