Endocrine Abstracts

Introduction: The chondrodysplasias are a heterogeneous group of genetic conditions affecting growth and form of the skeleton. As genetic knowledge has improved and genetic testing has become increasingly available, we hypothesize that over the past 10 years there has been an increase in the number of children where a genetic diagnosis is reached.Aims: To ascertain if there had been an increase in the number of chondrodysplasias confirmed by genetic test...

Introduction: Dual energy X-ray absorptiometry (DXA) scans are regarded as the gold standard for assessing bone health. However, an inability to distinguish between cortical and trabecular bone as well as the use of inapproapriate size corrections mean that this technique is of limited clinical use in conditions affecting either bone microarchitecture or patient size. We have trialled the use of high resolution MRI (micro MRI) in the measurement of bone microarchitecture in pa...

Background: Primary hyperaldosteronism (PHA) typically manifests as resistant hypertension, hypokalaemia and metabolic alkalosis. We present a case of PHA who subsequently exposed type 4 renal tubular acidosis (RTA) after surgical intervention.Case history: A 62 year old man underwent investigation for chronic resistant hypertension, which had failed to respond to titration of three antihypertensive agents including Perindopril, Amlodipine and Doxazosin....

Improvements in circulating cytokine levels have occurred in patients with endometriosis and chronic heart disease when prescribed the type 2 diabetes (T2D) drug metformin. However it is unclear how metformin exerts these effects and whether or not they are related to antihyperglycaemic effects in T2D. The purpose of this study is to investigate the relationship between anti-inflammatory and anti-hyperglycaemic effects of metformin in the liver, the main target tissue of the d...

Regulation of hepatic gluconeogenesis by insulin and glucagon is central to blood glucose homeostasis. It has been proposed that the members of AMP-activated protein kinase (AMPK)-related kinases, the salt inducible kinase (SIK) isoforms, may play a role as signalling mediator in the control of insulin- and glucagon-regulated hepatic gluconeogenesis. However, the exact regulation and contribution of SIKs in hepatic gluconeogenesis is largely elusive. Here we employed selective...

5α-Reductase (5αR) inhibitors decrease prostatic dihydrotestosterone in benign prostatic hyperplasia (BPH) treatment; finasteride inhibits 5αR type 2, while dutasteride inhibits 5αR1 and 2. 5αRs, especially 5αR1, are also expressed in metabolic tissues regulating actions of androgens and other substrates, including glucocorticoids.Hypothesis: 5αR1 inhibition with dutasteride induces metabolic dyshomeostasis.<p class...

Aims: MEN1 is characterised by parathyroid, pituitary and pancreatic tumours in association with neoplasia of intra-thoracic endocrine tissue, adrenal glands and cutaneous manifestations. Mutations of the tumour suppressor Menin are causative and affected patients possess heterozygous germline mutations in MEN1, with acquisition of a second hit in the wild-type allele initiating tumourigenesis. Phenotype–genotype correlations can provide insights into the molecular functi...

Brown adipose tissue (BAT) is a therapeutic target for obesity and associated metabolic diseases, due to its role in non-shivering thermogenesis. BAT activation is mediated through sympathetic stimulation, but parasympathetic regulation of human BAT has not been demonstrated previously. We undertook RNA sequencing of human white and brown primary adipocytes to identify novel pathways regulating BAT. CHRM2 (encoding the muscarinic acetylcholine receptor 2) was the most differen...

The recent discovery of brown adipose tissue (BAT) in adult humans, which generates heat to maintain body temperature in a cold environment, offers an exciting new strategy to treat obesity and metabolic disease, but our knowledge of human BAT activation is limited. To identify novel pathways regulating human BAT, we undertook RNA sequencing of human brown and white adipocytes. The gene SLC6A4 (encoding the serotonin transporter SERT) was one of the most highly differ...

Background: 18F-fluorodeoxyglucose (18FDG) PET is commonly used to quantify brown adipose tissue (BAT) mass/activity in humans but requires cold exposure. Rodent brown (BAds) but not white adipocytes (WAds) exhibit high choline content, thus we hypothesised that human BAT would demonstrate substantial 18F-fluorocholine (18FCH) uptake in vivo during warm and cold conditions.Methods: (1)...