Endocrine Abstracts

Background: Bardet-Biedl syndrome (BBS) is a rare melanocortin-4 receptor (MC4R) pathway disease characterized by early-onset, severe obesity and hyperphagia associated with primary cilia dysfunction. Patients with rare MC4R pathway diseases of obesity and hyperphagia, including BBS, experience high disease burden, but the relationship between hyperphagia and body weight in patients with BBS is not fully understood. We assessed the correlation between hyperphagia score and obe...

Non-alcoholic fatty liver disease (NAFLD) is the most highly prevalent chronic liver condition and is associated with significant adverse outcomes, both through liver-specific morbidity and mortality, but perhaps more importantly, through adverse cardiovascular and metabolic outcomes. NAFLD is a spectrum of disease, extending from simple steatosis, through to inflammation and fibrosis and risk of cirrhosis. The mechanisms that govern hepatic lipid accumulation and the predispo...

Glucocorticoids (GC), such as prednisolone, are widely prescribed for their anti-inflammatory and immunosuppressive properties. However, they have significant side-effects including insulin resistance and hepatic steatosis. 11β-Hydroxysteroid dehydrogenase type 1 (11β-HSD1) converts 11-dehydrocorticosterone (11DHC) to active corticosterone (CORT) and thus amplifies local GC action. We hypothesise that enhanced local GC regeneration of exogenously administered GCs by ...

Glucocorticoids have potent effects on almost every tissue in the body and this is exemplified in patients with Cushing’s disease. Whilst Cushing’s disease is rare, glucocorticoids are commonly prescribed for their anti-inflammatory actions, but their use is associated with a series of undesirable adverse effects, including obesity, insulin resistance, hypertension, myopathy and osteoporosis. Within tissues, glucocorticoids (both endogenous and exogenous) are metabol...

Hypophosphataemia is a common mineral metabolic abnormality affecting 2-3% of all hospital in patients and up to 34% of ICU patients. The causes are numerous. Over the last two decades following the identification of Fibroblast growth factor-23 (FGF-23) as the phosphaturic hormone responsible for Autosomal Dominant Hypophosphataemic Rickets (ADHR) in 2000 there has been an explosion in the understanding of phosphate homeostatic physiology and disorders of phosphate homeostasis...

Within tissues, glucocorticoids (both endogenous and exogenous) are metabolised by a series of enzymes that have the ability to tightly control local hormone availability and thus regulate binding to, and activation of, the glucocorticoid receptor. The 11β-hydroxysteroid dehydrogenases (type 1 [11β-HSD1] and type 2 11β-HSD2]) interconvert active (cortisol, prednisolone and corticosterone) and inactive glucocorticoids (cortisone, prednisone and 11-dehydrocorticos...

Acute hypocalcaemia can be a serious and potentially fatal medical emergency while chronic hypocalcaemia may be debilitating and is often associated with reduced quality of life. The usual aetiology of hypocalcaemia is hypoparathyroidism which is sufficiently rare to be officially recognised as an ‘orphan’ condition. Other causes of hypocalcaemia include vitamin D deficiency and hypomagnesaemia secondary to proton pump inhibitor therapy. The relative rarity of hypopa...

Steroid hormones have potent metabolic effects. Glucocorticoid excess is characterized by central adiposity, insulin resistance, type 2 diabetes and increased cardiovascular risk. Whilst endogenous glucocorticoid excess is rare, local tissue-specific availability of glucocorticoid is controlled by a series of enzymes that are, at a pre-receptor level, able to regulate cortisol’s ability to bind and activate the glucocorticoid receptor. 11β-hydroxysteroid dehydrogenas...

Hypercalcaemia is a moderately common condition accounting for approximately 1% of all acute general medical presentations. Guidance on emergency management of the hypercalcaemic patient, aimed primarily at the generalist and at guiding initial stages of management has recently been developed by the society (https://www.endocrinology.org/policy/docs/13-02_EmergencyGuidance-Acute...

Critical illness is associated with significant morbidity and mortality. The changes in the hypothalamo-pituitary-adrenal (HPA) axis that occur during critical illness are complex and whilst early studies had suggested improved outcome in patients with septic shock treated with parenteral glucocorticoids, this was not endorsed in subsequent studies and it remains a highly controversial area.In patients with underlying pituitary or adrenal disease where c...