Endocrine Abstracts

Background: Increased cardiovascular mortality and evidence of atherosclerosis have been reported in patients with pituitary disorders, irrespective of type of pituitary hormone deficiency. However, there are few data on cardiovascular events in patients with secondary adrenal failure due to pituitary disease compared with those who have primary adrenal failure.Subjects: 2052 patients with primary adrenal failure were compared with 20 366 matched control...

Background: The CRISPR/Cas9 genome-editing platform is a powerful technology to create genetically engineered cells and organisms. However, the success of CRISPR genome editing experiments is limited by the intracellular delivery and expression of Cas9 endonuclease protein and guide RNA (gRNA). Beta-tumour cells (βTC-6), derived from transgenic mice, exhibit glucose stimulated insulin secretion which makes them a valuable tool in understanding the mechanisms that regulate...

Background: Congenital Hyperinsulinism (CHI) is characterized by the unregulated secretion of insulin in the presence of hypoglycaemia. The mutations in ABCC8 and KCNJ11, which encode the sulfonylurea receptor 1 (SUR1) and potassium inward-rectifying 6.2 (Kir6.2) subunits of ATP-sensitive potassium channel (K channel), are the most common identified cause of the condition. Defects in the HADH gene are responsible for SCHAD-HI, a rare form of the disease caused by the disruptio...

Case History: In 2011, an asymptomatic 63-year-old professor was found to have isolated hypokalemia. He was normotensive and his only past medical history was hypercholesterolaemia. Investigations were suggestive of Primary Hyperaldosteronism (PHA): aldosterone 1055 pmol/L, renin mass 10 mU/L, Na+137 mmol/L, K+3.2 mmol/L, bicarbonate 31 mmol/L. A CT scan was reported as normal, but a 12mm nodule was subsequently noted contiguous with the left adrenal. A m...

Hyponatraemia is commonly encountered in neurosurgical units. Salt wasting syndrome is rare, and thought to occur due to ANP- and BNP-mediated natriuresis, leading to hypovolemic hyponatraemia. A 31 year old male was transferred to the National Neurosurgical Unit with a 12 hour history of back pain, progressive lower limb weakness and sensory loss. MRI demonstrated an epidural haematoma, extending from C7 to T3, and he underwent emergency decompressive laminectomy. Vasopressin...

Objective: Though many studies have looked at the neonatal outcomes in patients with gestational diabetes on different medications, there is no consensus on the preferred drug for initiation of therapy. We aim to compare the neonatal outcome in a cohort of patients attending our service, to determine if one modality is superior to the other.Methods: This study is a prospective observational study from 1-07-2015 to 31-04-2016. The data of all gestational ...

A 60-year-old Caucasian lady was referred to the metabolic bone clinic for assessment of osteoporosis. Her risk factors for osteoporosis included gender, postmenopausal status, childhood immobility due to illness, previous severe vitamin D deficiency, COPD, as well as an extensive smoking and alcohol history. She had multiple previous fragility fractures involving her ribs and both radii. A DEXA scan revealed lumbar osteoporosis (T -4.0) and femoral osteopenia (T -2.0). Thorac...

Background: Appendiceal neuroendocrine tumours (aNETs) are usually diagnosed incidentally at appendicectomy, are indolent and rarely recur. Current ENETS guidelines inform aNETs management and highlight areas of uncertainty. We aimed to identify risk factors that predict lymph node metastasis, residual disease at completion surgery, or disease recurrence and also assessed survival according to ENETS stage.Methods: We retrospectively analysed a prospectiv...

Background: Heat acclimatisation (HA) describes phenotypic changes (decreased heart rate, HR; lower core body temperature, Tc) resulting from exposure to a hot environment. Heat tolerance with HA may reflect altered adrenocortical and autonomic nervous responses to heat stress, though evidence for sympathetic downregulation is lacking. Methodological limitations to further investigation (e.g. with direct catecholamine measurement) could be overcome by assaying the catecholamin...

Background: Work in a hot environment can cause elevated core body temperature (Tc), circulatory insufficiency and death from Exertional Heat Illness (EHI). Failure to undergo successful heat acclimatisation (HA) is seen in ~5% of otherwise healthy volunteers and may lead to significant EHI, but pathways to severe illness remain poorly understood. Copeptin, a glycopeptide co-secreted with the pituitary hormone arginine vasopressin, reflects osmotic and cardiovascular stress an...