Endocrine Abstracts

Introduction: When hypoglycaemia (blood glucose <2.6 mmol/l) is detected in a child a ‘Hypopak’ is sent, which tests for blood glucose, lactate, hydroxybutyrate, insulin, growth hormone, cortisol, amino acids, acylcarnitines, and urine organic acids. We aimed to determine whether samples were sent appropriately and completely, and whether a diagnosis ensued.Methods: All Hypopak samples received by the laboratory between 1/4/17 and 31/3/18 w...

Cognitive bias is a systematic error in thinking that influences decision making and judgement. It occurs when people are processing and interpreting information given to them. Contemporary theories of clinical reasoning suggest a dual processing model, which consists of (i) a rapid intuitive component based on personal ‘mind lines’, heuristics, beliefs, judgements and preferences, and (ii) a slower logical and analytical component based on science and rationale. The...

Introduction: Ketotic hypoglycaemia is not an unusual presentation in preschool children particularly following gastroenteritis. Non-ketotic hypoglycaemia in a child is uncommon and could be due to endocrine or metabolic disorders.Case report: Presentation: 4-year-old presented with fainting episode and hypoglycaemia as first episode. She was managed by the ambulance crew with oral glucose. Weeks later present to emergency department with non ketotic hyp...

Introduction: Aurantiasis cutis is an asymptomatic condition characterised by yellow discolouration of the skin and is caused by high levels of β-carotene. Beta carotenaemia has frequently been associated with the development of menstrual disturbances in women but no causal link has been established.Case report: We herein present a case of a 15 year old Caucasian girl (otherwise well, BMI 24) who presented with aurantiasis cutis together with a four...

Background: Congenital Hyperinsulinism (CHI) is characterized by the unregulated secretion of insulin in the presence of hypoglycaemia. The mutations in ABCC8 and KCNJ11, which encode the sulfonylurea receptor 1 (SUR1) and potassium inward-rectifying 6.2 (Kir6.2) subunits of ATP-sensitive potassium channel (K channel), are the most common identified cause of the condition. Defects in the HADH gene are responsible for SCHAD-HI, a rare form of the disease caused by the disruptio...

Mitochondrial disorders are the result of mitochondrial respiratory chain dysfunction and caused by mutations of genes encoded by the nuclear or the mitochondrial DNA. They affect approximately 1 in 5000 of the population and are the most common group of inborn errors of metabolism. Most of them involve multiple organ systems with predominant central nervous system features including ptosis, external ophthalmoplegia and sensorineural hearing loss.Introdu...

Introduction: In the Cardiff and Vale (C&V) Health Board, there are 203 children and young people (CYP) under the care of the multidisciplinary team (MDT), 96% of whom have T1DM. Every CYP is offered four outpatient clinic appointments every year, one of which is an annual review. The majority of them are situated in the University Hospital Wales (UHW) site, whereas the University Hospital Llandough (UHL) clinic was introduced in 2016 for easier access for the CYP from the...

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: The prevalence of childhood obesity is continuing to increase, especially in more deprived areas. It is estimated that 28% of children are overweight or obese in England. Evidence has shown that obesity is associated with increased intracranial pressure (ICP) in adult and paediatric populations. We report three patients who presented with intracranial hypertension due to severe obesity.Case 1: A fifteen-year-old girl presented with severe h...