Endocrine Abstracts

A 40 year old gentleman presented with dramatic weight loss and a rash in the perineal area spreading to involve his face, trunk, legs and feet. Initial investigations demonstrated a normocytic anaemia with no evidence of thyroid disease or diabetes. Occasional diarrhoea prompted subsequent investigations including upper GI endoscopy, duodenal biopsy, pancreatic exocrine testing and barium follow-through studies which were normal. His 24 hour urinary 5-hydroxyindoleacetic acid...

Background: Glucagon-like-peptide-1 (GLP-1) has been shown to improve body weight and glycaemic control in patients with common obesity and type 2 diabetes. Whether it confers the same metabolic benefits in monogenic syndromic obesity is unknown. This observational study aimed to examine the real-world efficacy of GLP-1 analogues in Alström syndrome (ALMS), a form of monogenic obesity.Method: We screened all 72 UK a...

IntroductionHypoparathyroidism (hypoPT) is one of the most complications after thyroid surgery, usually as transient hypocalcemia. Permanent hypoPT due to permanent parathyoid lesion, despite being less frequent, is associated to long term consequences for both objective and subjective well-being and should be prevented. Identifying predictive factors associated with post- thyroidectomy hypoPT is thereby crucial.Aim<p class="ab...

Introduction: Low-grade pituitary gliomas are extremely rare neoplasms, originating from the pituicytes of the posterior pituitary or infundibulum. The incidence of these tumors increases with age and peaks in the seventh decade of life. Gliomas are primary brain tumors of the supporting glial cells of the central nervous system, which derive from neuroglial stem cells or progenitor cells. They are responsible for nearly 30% of all primary brain tumors and 80% of all malignant...

The recombinant human interferon α-2a (rhIFN α-2a) is a cytokine with antiviral, antiproliferative and immunomodulatory properties, indicated for the treatment of hepatitis B and C and leukemias. The rhIFN α-2a consists of a 165–166 amino acids with molecular mass of 19.5 kDa. The aim of this work was to develop and validate the reversed-phase (RP-LC) and size-exclusion (SE-LC) liquid chromatography methods for the physico-chemical characterization of rhIFN...

Triple A syndrome (AAAS), a rare and debilitating autosomal recessive disorder. It is characterised by adrenal failure, alacrima and achalasia; ~70% patients develop a neurodegeneration. The AAAS gene encodes ALADIN, a nuclear pore complex (NPC) protein necessary for the selective nuclear import of DNA protective molecules and is important for cellular redox homeostasis. ALADIN’s role is not fully characterised: its discovery at the centrosome and the endoplasmic...

Non-alcoholic fatty liver disease (NAFLD) is a spectrum of disease ranging from simple intrahepatic lipid accumulation to fibrosis, cirrhosis, and hepatocellular carcinoma (HCC). 5β-reductase (AKR1D1) is a liver enzyme that catalyses a fundamental step in bile acid (BA) synthesis. Both BAs and BA intermediates are established as potent regulators of metabolic and proliferative phenotype. We have hypothesised that AKR1D1 plays a crucial role in NAFLD and HCC. Human liver b...

Bile acids (BAs) are synthesised from cholesterol in the liver and promote lipid digestion. An emerging body of evidence, however, suggests that BAs are also key signaling molecules with potent metabolic and endocrine functions, exerting their effects through activation of BA receptors, including the farnesoid-X- (FXR) and the G-protein-coupled- (TGR5) receptors. Disturbed BA synthesis has been associated with type 2 diabetes mellitus and insulin resistance, and recent studies...

The 5-reductases are steroid metabolising enzymes that saturate the C4=C5 bond of the steroid A-ring, and their substrates include androgens, glucocorticoids, and bile acids. 5β-reductases (SRD5A1 & SRD5A2) convert testosterone to the more potent androgen 5β-dihydrotestosterone, and carry out the first step in glucocorticoid clearance, generating 5β-dihydrocortisol from cortisol. 5β-reductase (AKR1D1) is also able to carry out the first step of glucocor...

Background: Prader-Willi syndrome (PWS) is the most frequent genetic cause of obesity and is often complicated by glucose metabolism alterations. Conventional therapies prescribed in type 2 diabetes mellitus (T2DM), like oral hypoglycemic agents and insulin, frequently failed to achieve adequate glycemic control in patients with PWS. Beneficial effects of the glucagon like peptide-1 receptor agonists (GLP1RAs) exenatide and liraglutide have been reported for the management of ...