Endocrine Abstracts

Introduction: Turner’s syndrome, also known as 45 X, or 45 X0, is characterised by the absence of one of the pair of X chromosomes. Clinical features are variable, and affected girls require regular review to identify and manage these. The Turner’s Syndrome Support Society has produced a health checklist for the management of Turner’s Syndrome, which provides a schedule for investigations. The aim of this audit was to evaluate whether we are meeting these standa...

Introduction: A 7 year old boy with history of Joubert’s syndrome presented with first presentation of type 1 diabetes mellitus in Diabetic ketoacidosis (DKA) and a hyperglycaemic hyperosmolar state (HHS). His underlying neurological condition made clinical assessment difficult and he had reduced GCS with intermittent apnoeas but no respiratory compromise. Using the BSPED guideline (2015) for DKA he was managed with cautious fluid replacement despite his hyperosmolar stat...

Background: A 29 year old female presented to the Emergency department with headache, vomiting and loose stools for 24 hours. She was not known to have diabetes. She had a background of bilateral sensorineural deafness for 6 years and resolved Gillian Barre syndrome 8 years prior. She has a family history of deafness and diabetes mellitus in her maternal grandmother and mother; and diabetes in her maternal aunty and two maternal uncles diagnosed with prediabetes. She has a par...

Background: Hyponatraemia is the most common electrolyte abnormality, encountered in up to 30% of inpatients. Plasma sodium levels <125 mmol/l are classed as severe and can be associated with drowsiness, confusion, ataxia and personality change. In mild hyponatraemia, the patient is usually asymptomatic, although studies have shown chronic low sodium of any level may be associated with increased mortality and longer hospital stays. Vasopressin receptor antagonist (tolvapta...

Aim: To audit the current practice of investigations for children presenting with type I diabetes in our centre and identify delays in referral to secondary care.Standards: Guidelines published by ACDC: Care of the well child newly diagnosed with type I diabetes, NICE: “Diabetes (Type I and Type 2) in children and young people” August 2015 and local trust guidance “Paediatric diabetes - management of newly diagnosed well child”.<p...

Introduction: The International Diabetes Federation 2019 Diabetes Atlas states that the UK has the highest number of children and young people aged 0–14 with Type 1 Diabetes in Europe, with the incidence of cases observed to be rising on a national and international level. The National Paediatric Diabetes Audit (NPDA) 2020–2021 report identified countrywide inequalities between measures of diabetic health and treatment devices used within the paediat...

Trisomy 18, or Edwards syndrome, is a chromosomal disorder, due to the presence of a supernumerary chromosome 18. Worldwide, it is estimated to have a prevalence of 1/6000 live births, of which the most affected are female. Infants with trisomy 18 have a high mortality rate, secondary to the lethal malformations associated with this syndrome. The objective of this study is to describe the clinical and cytogenetic characteristics of these patients and to demonstrate the value o...

Short chain fatty acids (SCFAs), including propionate, are the main metabolic by-products in the fermentation of non-digestible dietary fibre by the gut microbiota. SCFAs have wide-ranging effects in vivo, and their receptors, free fatty acid receptor 2 (FFAR2) and free fatty acid receptor 3 (FFAR3), are expressed at numerous tissue sites. Sodium propionate supplementation has been shown to increase energy expenditure, induce sympathetic neuron action potentials and p...

Case History: A 57 year old male, who was known to have primary hyperparathyroidism was admitted to hospital due to hypercalcaemia on routine blood tests (adjusted S. calcium- 3.44 mmol/l.) He had no symptoms due to hypercalcaemia. This was his 5th admission since the diagnosis 18 months ago, each admission requiring treatment with IV fluids and IV bisphosphonates. SESTAMIBI and ultrasound scans of the thyroid and parathyroids had previously localised a likely right inferior p...

Background: Conservation of genes involved in TH transport, metabolism and action can reveal clues about the origins of TH signaling. A deiodinase homologue (DdDio) was previously identified in the social amoeba Dictyostelium discoideum (Singh, 2014). Dictyostelium cells live as single cell amoebae in soil where they feed on bacteria. However, upon starvation a developmental program is initiated that results in the formation of a multicellular fruiti...