Endocrine Abstracts

Introduction: Genetic projects, such as 100KGenomes, are identifying a vast amount of genetic variants that require interpretation. Several variants lack sufficient evidence to be classified as neutral or damaging. Such variants are annotated as ‘unclassified’ and interpretation of their biological effect is of paramount importance, but remains a major challenge. Variant predictors are widely used to prioritize variants for further studies...

Hypoparathyroidism may occur as: a hereditary syndromic disorder (e.g. Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED), Hypoparathyroidism Sensorineural Deafness and Renal Disease (HDR), Autosomal Dominant Hypoparathyroidism type 1 (ADH1), or ADH type 2 (ADH2), which are due to mutations of autoimmune regulator (AIRE), GATA binding protein 3 (GATA3), calcium-sensing receptor (CASR) and G-protein sub...

Introduction: Current clinical practice guidelines recognise that a calculated free testosterone (T) level is the single most-useful, clinically sensitive marker of androgen excess in women, but there is no clear guidance as to the best way to measure free T. Several equations have been proposed to calculate clinically useful estimates of free T including the free androgen index (FAI) and calculated free T (cFT). The FAI is not used in men but it is...

Introduction: Plasma metanephrines (PMETS) are widely used as a first-line investigation for phaeochromocytoma/paraganglioma owing to the high diagnostic sensitivity of the test. Liquid chromatography-tandem mass spectrometry (LC-MS/MS) has become the methodology of choice for measuring PMETS due to the high analytical specificity of the technique. However, there have been recent reports of interference in LC-MS/MS PMETS assays by the α1-recept...

Oxytocin is a peptide hormone consisting of 9 amino acids, with a mass of 1007 Da. It is synthesised in the hypothalamus and secreted from the posterior pituitary. It has well known roles in lactation and uterine contraction, however it is also thought to act within the brain to influence complex social behaviours such as bonding, empathy, and trust. Recently there has been increasing interest in the potential role of oxytocin in the pathophysiology...

Replacing glucocorticoids in patients with adrenal insufficiency is challenging, as endogenous cortisol levels rise before waking. Currently we use steroid replacement first thing in the morning. Administration of a delayed release preparation last thing at night, if reliable, could mimic the rise in cortisol that occurs before waking. Lodotra is a modified release prednisone that has a delay in the onset of action, and when given last thing at night, might cause a rise in lev...

Sex hormone binding globulin (SHBG) is a glycoprotein which binds hormones such as testosterone. Around 97% of circulating testosterone is bound to SHBG and is therefore biologically unavailable; approximately 2–3% of testosterone is free or loosely bound to proteins such as albumin, and is biologically active, or bioavailable. Free testosterone is very technically challenging to quantify; in order to circumvent this problem, equations are used...

Introduction: Glutathione system prevents oxidative stress development in erythrocites. When this system becomes depressed it predisposes a cell to apoptosis.Aim: To study glutathione system status in patients with diabetesMaterials and methods: Included patients were divided into four groups: group 1–41 almost healthy person (control group), group 2–41 patients with type 2 diabetes (T2D), group 3–40 patients with T2...

Background: Hyponatraemia (most commonly secondary to SIADH) is very common in cancer patients; it is associated with delays to oncology treatment and mortality.Aim: To evaluate the number of patients with hyponatraemia at a tertiary referral cancer centre and assess adherence to national recommendations for investigations and treatment.Methods: All biochemistry results (in-patient and outpatient) analys...

A 71 year old man presented with 6 months history of pain over the nipples, weight loss of ½ stone over the previous month and nausea. Initial investigations carried out by the breast surgeons including ultrasound scan of the breast and testes were normal. He was then referred to the Endocrine department for further investigations. There was no significant past medical history, he was taking over the counter vitamins and ...

Introduction: Hyponatraemia is the most common electrolyte disturbance, affecting 15–20% of emergency admissions to hospital. It is associated with increased mortality and length of stay in hospital. This audit was performed to evaluate how well hyponatraemia is being investigated and managed in the Acute Assessment Unit (AAU).Methods: Sodium level on admission for all patients attending AAU at Conquest Hospital over a 1-...

Introduction: Hyponatraemia is the commonest electrolyte disturbance affecting patients in and out of hospital. Streamlining and improving the investigation of hyponatraemia will quicken diagnosis, improve patient outcomes and prevent deterioration and unnecessary stay in hospital. We aimed to audit the assessment of patients with hyponatraemia against our existing guidelines (Hyponatraemia – An Investigator’s Checklist).<p class="abst...

A 74 years old man prsented with gradually worsening confusion with associated jerky movements with background of well controlled type 2 Diabetes, CKD-3, IHD and previous duodenal ulcer. His was on Finasteride, Omeprazole, Mirtazapine, Tamsulocin, Metformin, Atorvastatin, Humulin I insulin. He was taking omeprazole for Duodenal ulcer since 1993.On examination he had jerky movements of the arms suggestive of muscles spasms. Res...