Endocrine Abstracts

Background: Patients with salt-wasting congenital adrenal hyperplasia (CAH) due to classic 21-hydroxylase deficiency require glucocorticoid (GC) and mineralocorticoid (MC) replacement therapy. Recently, it was shown that twice daily modified-release hydrocortisone hard capsules (MRHC, Efmody®, Diurnal Ltd) improved control of CAH with most patients showing good disease control versus standard GC therapy. However, no data has been reported on the renin-angiotens...

Background: Fertility in CAH women is impaired: 0.25 live births vs 1.8 in the UK population and 45% have irregular menses vs 13.6% in healthy women1. Male fertility is also impaired in CAH with oligospermia reported in 48%2. Treatment of infertility usually involves increasing the glucocorticoid dose to normalise adrenal androgens and progesterone to facilitate ovulation and implantation, respectively. Modified-release hydrocortisone (MRHC) capsules, (Ef...

Background: Modified-release hydrocortisone (MRHC) capsules (Efmody, Diurnal Ltd, Cardiff, UK), have been developed to replicate the cortisol diurnal rhythm and shown to improve CAH disease control1. We have examined relative bioavailability of MRHC and disease control of congenital adrenal hyperplasia (CAH) patients switched from standard therapy to MRHC.Methods: An open label, randomised, 2 period, crossover study comparing the relative bioavailability...

Background: Bariatric surgery (BS) has proven to be an effective and sustainable long-term treatment in the remission of metabolic disorders. Bile acids (BAs) are involved in the improvement of metabolic comorbidities by acting on the distal ileum (releasing GLP1, PYY and FGF19) and on the microbiota. Our aim is to verify whether the formation of ABs depends on the type of bariatric surgery.Subjects and Methods: 21 patients (81% women) underwent bariatri...

Background: Growth hormone (GH) stimulation testing is necessary for the diagnosis of growth hormone deficiency (GHD). Insulin tolerance test (ITT) has been considered the gold standard for evaluating GHD in adults. However, it carries a risk of rare but severe adverse effects secondary to hypoglycaemia and is therefore avoided in many centres. There is no consensus for the first test in children.Aim: Audit to compare ITT to Arginine test as a first line...

Background: X-Linked Hypophosphataemia (XLH) is a rare, progressive, hereditary phosphate wasting disorder characterised by a pathological increase in fibroblast growth factor 23 concentration/activity. Despite XLH being increasingly recognised as a chronic progressive disease, there are few data documenting its natural history or impact of treatment. The International XLH Registry will collect data to characterise burden of disease, disease progression and long-term outcomes....

Chronic hypoparathyroidism (HypoPT) is a rare endocrine condition characterised by hypocalcaemia and deficient or absent parathyroid hormone. The recent European Society of Endocrinology Guidelines outline recommendations for treatment and monitoring of chronic HypoPT in adults. A Delphi panel was conducted to agree upon the characteristics that define ‘not adequately controlled on standard therapy’ where this relates to patients with chronic H...

Chronic hypoparathyroidism (HypoPT) is a rare endocrine condition characterised by hypocalcaemia and deficient or absent parathyroid hormone. The recent European Society of Endocrinology Guidelines outline recommendations for treatment and monitoring of chronic HypoPT in adults. A Delphi panel was conducted to agree upon the characteristics that define ‘not adequately controlled on standard therapy’ where this relates to patients with chronic H...

Introduction: Familial Hypercholesterolaemia (FH) is an autosomal dominant inherited disorder of lipid metabolism. Affected children have elevated cholesterol from birth with accelerated atherosclerosis and significant cardiovascular disease (CVD) from the third decade. 1 in 250 people are affected and early treatment can eliminate the risk of premature CVD. Genetic testing guidance was published in August 2008 and a CVD outcomes strategy was produced in 2013. From 2014 the Br...

Background: The investigation of short stature includes evaluation of a number of clinical, radiological, and biochemical factors. This often includes dynamic function testing to rule out abnormalities of the hypothalamic–pituitary axis to rule out GH deficiency (GHD). NICE guidance advises that two GH stimulation tests demonstrating subnormal GH peak <6.7 μg/ml (20 mU/l) is required to confirm the diagnosis of GHD.Objectives: To interrogat...