Endocrine Abstracts

ATR-101 is a selective Acyl-CoA: cholesterol acyltransferase 1 (ACAT1) inhibitor in development for the treatment of diseases of the adrenal cortex including rare endocrine diseases, such as congenital adrenal hyperplasia (CAH) and Cushing’s syndrome (CS), and in adrenocortical carcinoma (ACC). ATR-101 has been shown to inhibit adrenal steroidogenesis at low doses and cause apoptosis at high doses. To better understand the adrenal-specific effects of ATR-101, in vivo<...

Background: Diabetes is the commonest cause of end-stage renal disease in the western world. However not all type 2 diabetic subjects develop renal disease, and of those who do, not all progress. At present it is not possible to identify patients who will progress.Aim: The aim of the study was to identify baseline risk factors for the development and progression of renal disease in a cohort with type 2 diabetes and use this data to generate risk equation...

The factors responsible for regulating primordial follicle activation and early preantral follicle growth remain poorly understood, despite their importance in determining a female’s reproductive lifespan. The essential role of the epidermal growth factor (EGF) family of receptors (ErbBs) during ovulation is well established; however there is emerging evidence that ErbBs may also be important regulators of early follicle development. This study aimed to investigate the ro...

Introduction: Familial Hypocalciuric Hypercalcemia (FHH) is a benign autosomal dominant condition caused by an inactivating mutation on the gene coding for the Calcium Sensing Receptor (CASR). CASR plays a role in regulating parathyroid secretion and calcium metabolism. The majority of adults with FHH are asymptomatic. This is a case of three young brothers whose genetic tests shows two mutations in each of their CASR gene leading to hypercalcemia and varying symptoms.<p c...

Introduction: Hypertriglyceridemia is rare but associated cause of pancreatitis and accounts for 10% of cases. Hypertriglyceridemia induced pancreatitis may occur secondary to causes such as diabetes, pregnancy, hypothyroidism and obesity. Management of hypertriglyceridemia includes a change in dietary intake as well as lipid lowering agents, fenofibrates, statins and omega 3 fatty acids. To reduce the triglycerides acutely, intravenous heparin and insulin have been used. In t...

Primary hyperparathyroidism (PHPT) is one of the common endocrine conditions and is frequently associated with hypertension and increased cardiovascular mortality but this association is not well recognised. The purpose of this study was to evaluate the effect of parathyroidectomy on blood pressure. The data of 112 patients who attended our out patients clinic over the period of 12 months, with the confirmed diagnosis of primary hyperparathyroidism was evaluated. Average age w...

A 77 year old female was referred to endocrinology with an incidental finding of hypophosphataemia (0.26 mmol/l) on routine bloods. She described a slight unsteadiness on her feet, but denied bone pain or overt muscle weakness. Past medical history included Type 2 Diabetes Mellitus, a left humeral fragility fracture and the subsequent diagnosis of osteoporosis 2 years previously. At presentation the corrected calcium was slightly elevated (2.64 mmol/l), which normalised when r...

A 70-year-old lady, with a background of primary hypothyroidism presented to the Emergency department with a 1 day history of confusion and drowsiness. On examination her HR was 58 bpm, temperature 28 degrees celsius. She was resuscitated with warm fluids and bair hugger, whilst also given broad spectrum intravenous antibiotics. Her blood results showed an AKI with creatinine of 213 and was treated for a NSTEMI with a troponin on admission of 1770, rising to 2190. ECG showed p...

Introduction: Measurement of plasma metanephrines (PMETS) is widely regarded as one of the best screening tests for phaeochromocytoma/paraganglioma (P/PGL). Current Endocrine Society guidelines recommend that samples for PMETS are ideally collected in the supine position after 30 min rest and interpreted using supine reference ranges, in order to optimise the diagnostic performance of the test. Current practice in our centre is to collect samples for PMETS from seated patients...

Introduction: MicroRNAs (miRNA) are a novel class of small noncoding single-stranded RNA molecules 18–24 nucleotides long that regulate gene expression at the post-transcriptional level. There is increasing evidence of their importance in polycystic ovary syndrome (PCOS), with their differential expression depending on obesity. There is recent evidence that miRNA-93 and mi-RNA-223 may have a role to play in the modulation of insulin resistance, through GLUT4 modulation in...