Endocrine Abstracts

Context: We have previously demonstrated that, in cranially irradiated patients with normal peak GH responses to both the insulin tolerance test (ITT) and the growth hormone-releasing hormone plus arginine stimulation test (GHRH+AST), somatotroph reserve can be substantially reduced, while individual and overall spontaneous GH secretion remain entirely normal due presumably to a compensatory increase in hypothalamic stimulatory input within a partially damaged hypothalamic pit...

Copeptin is a stable AVP marker and stoichiometrically released with AVP. It closely reflects changes in water balance. Its stimulation in severe stress has recently has been suggested for the early diagnosis of myocardial infarction but clear definition of the physiological variability is necessary. Here, we studied the pulsatile and circadian variation in healthy individuals and compared copeptin to cortisol rhythms.Copeptin levels were sampled every 2...

Our endocrinology department had been looking after a patient with Graves’ disease since 2007. At this time, she was 17 years old (TSH <0.03 mIU/l, T4 62.6 pmol/l). Carbimazole was prescribed but she was non-compliant with medications and clinic appointments. Her background history included DiGeorge Syndrome (22q11 deletion) manifesting with a bicuspid aortic valve, primary hypoparathyroidism and chronic constipation. She was seen in October 2011 and carbimazole incre...

An audit of parathyroidectomies carried out at the East and North Herts Trust between 2010 and 2014 revealed a 25% failure rate following surgery. The audit revealed inappropriate pre-operative workup with regards to biochemistry and/or imaging in 40% of cases. In 2015, a parathyroid MDT was established. The aim of this was to ensure patients had appropriate investigation prior to referral for surgery. A Trust hyperparathyroidism pathway was written based on best practice and ...

Background: The adrenal glucocorticoid, cortisol, has a distinct circadian rhythm regulated by the brain’s central pacemaker. This cortisol rhythm acts as a secondary messenger to peripheral tissues and loss of the rhythm is associated with increased morbidity and mortality. This is a specific problem in adrenal insufficiency and congenital adrenal hyperplasia (CAH). Based on pharmacokinetic modelling we have developed a modified-release formulation of hydrocortisone (MR-...

Familial hypocalciuric hypercalcaemia (FHH) comprises three types: FHH1, FHH2, and FHH3, which are due to mutations of the calcium-sensing receptor (CaSR), G-protein α 11 subunit (Gα11), and adaptor protein-2 sigma subunit (AP2σ), respectively. The aims of this study were: to assess for genotype–phenotype correlations among the three reported FHH3-causing AP2σ mutations, which all involve the Arg15 residue, and comprise Arg15Cys, Arg15His, and Arg15Leu...

Familial hypocalciuric hypercalcaemia (FHH) is an autosomal dominant disorder characterized by hypercalcaemia and inappropriately low urinary calcium excretion, and is occasionally associated with acute pancreatitis. FHH can be classified into three types: FHH type 1, caused by loss-of-function mutations of the calcium-sensing receptor (CaSR), which accounts for >65% of cases; FHH type 2, due to loss-of-function mutations of the G-protein α 11 subunit (Gα11), of ...