Endocrine Abstracts

Objective: To audit the investigation and diagnosis of severe hyponatraemia (serum sodium ≤125 mmol/l) in elderly (age ≥65 years) medical in-patients admitted with this problem.Method: Standards for the investigation and diagnosis of hyponatraemia were designed after literature review and discussions with local endocrinologists. Elderly patients with hyponatraemia on admission were identified retrospectively over a 12 month period from the la...

Background: There exists low confidence in prescription of multiple daily injections (MDI) for newly diagnosed Type 1 Diabetes Mellitus paediatric patients among paediatric doctors at Basildon & Thurrock University Hospital (BTUH).Aim: To improve the confidence in MDI discharge prescriptions for paediatric doctors of all grades via adaptation of local guidelines.Methods: We des...

A 60 year old gentleman with a history of renal stones presented 5 years ago with left sided flank pain. A CT of his renal tract showed an unexpected metastatic deposit in the left iliac crest. Cross-sectional whole body imaging, performed to locate the primary, also identified an expansile soft tissue mass in the T8 vertebral body and a predominantly cystic looking left sided thyroid nodule. He proceeded to have an iliac crest biopsy which was consistent with metastatic folli...

Background: Congenital hyperinsulinism (CHI) is a heterogeneous genetically determined condition that is characterised by unregulated secretion of insulin from pancreatic β-cells. The most common and severe cases are caused by mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel subunit. Autosomal recessive mutations in HADH gene are a rare cause of CHI. The advances in CRISPR/Cas9 gene editing technology has enabled the i...

Background: Neanderthals split from an ancestral human population ~500,000 years ago and lived in Eurasia until 40,000 years ago. Early modern humans emerged in Africa ~350,000 years ago migrating into Eurasia 50,000 years ago. Interbreeding occurred between early modern humans and Neanderthals leading to the introduction of Neanderthal DNA into the early human population, a process termed introgression. In modern Eurasian populations around 2-4% of DNA is of Neanderthal origi...

The amount of radioactivity given to patients undergoing ablation for remnant tissue in thyroid cancer at our centre has been greatly reduced to 1100 MBq I-131 in recent years, prompting a review of practice. An extensive risk assessment, focusing particularly on radiation exposure to the public during the patient’s commute home was conducted and found patients could now be discharged safely on the day of treatment. Owing to these findings and audit showing 86% of patient...

Background: Graves’ disease is the commonest cause of hyperthyroidism. Although first line and definitive treatment options are clearly defined, management practices and the natural history in terms of outcomes of treatment in a large consecutive cohort of Graves’ disease has not been well characterised.Aims: To describe incidence, presentation, diagnosis, management strategies and medium term outcomes following anti-thyroid drug treatment, rad...

Introduction: Van Wyk-Grumbach syndrome was first described in 1960 in patients presenting with long standing juvenile hypothyroidism, delayed bone age and precocious puberty. Literature review indicates only few cases reported in males compared to females. We are reporting this case in a male patient who presented with short stature.Case: A 7.25-year-old boy was referred for endocrine opinion due to short stature. He had not grown over the last 18 month...

Introduction: In congenital hyperinsulinism (CHI) hypoglycaemia results from a dysregulation of insulin secretion. We hypothesised that other pancreatic hormones may also be dysregulated in this condition.Objectives: To proof the applicability of Luminex Multiplex method to measure pancreatic hormones (insulin, C-peptide, glucagon, amylin and PP) in the paediatric age. To elucidate the fasting response of these hormones in children with different forms o...

Introduction: Bedside blood ketone measurement has often been used in the management of diabetic ketoacidosis. However there is no available data on its reliability in the evaluation of hypoglycaemia in children. We aimed to assess the reliability of bedside ketones (beta-hydroxybutyrate (BHB)) in the evaluation of hypoglycaemia in children.Methods: We collected data on 20 children who had paired measurement of bedside and lab BHB at the end of a control...