Endocrine Abstracts

DKA guidelines aim to reduce risk of cerebral oedema. We present the outcomes of three young females with severe DKA with reduced conscious level at diagnosis that required deviation from these guidelines.A. 12-year-old, pH 6.88 with DKA and sepsis. Received 20 ml/kg initial fluid bolus. CT head scan was normal. Hypotension required further fluid boluses, inotropes and an increase in fluids to 65% above the rate on DKA protocol. Although slow to wake aft...

Background: The paediatric diabetes team at our Children’s Hospital were part of a national clinical trial considering whether long term outcomes are better for patients on MDI (multiple daily injection therapy) or insulin pump therapy from diagnosis. Patients and their families had to be approached, consented and treatment for the trial commenced within two weeks of diagnosis. Many centres struggled to recruit, but this was not the case with our centre.<p class="abst...

Introduction: The Best Practice Tariff states that units must provide a structured education programme which should be ‘tailored to the child’s needs, both at the time of initial diagnosis and ongoing updates’. Traditionally, there has been poor uptake of our education sessions with attendance rates of 20% (range 0–30). Therefore, an integrated education clinic was introduced which combined education within a multidisciplinary (MDT) clinic session for ongoi...

Background: Children and Young People (C&YP) with poorly controlled diabetes are at increased risk of diabetic ketoacidosis (DKA) and long-term sequelae. There is no clear evidence about how best to manage them. NPDA data highlights that UK numbers are in decline, but still constitutes 21.3% of C&YP with diabetes. The high HbA1c pathway at Nottingham Children’s Hospital (NCH) aims to systematically identify and support C&YP with HbA1c >80 mmol/mol. It prov...

Background: Hybrid closed loop (HCL) insulin systems are associated with better glycaemic control and reduced hypoglycaemia risk. They represent the most advanced form of insulin delivery for people with type 1 diabetes mellitus (T1DM).Aim: The study aimed to evaluate effectiveness of 3 HCL systems in children and young people (CYP) with T1DM at Nottingham Children’s Hospital.Methods:<...

Introduction: ROHHADNET is a rare syndrome characterized by rapid onset obesity, hypoventilation, hypothalamic dysfunction, autonomic dysregulation and neuroendocrine tumours. Although obesity is the first recognisable feature, there is variable onset of other features, resulting in delayed or missed diagnosis, potentially leading to fatal consequences. We describe two cases with features of ROHHADNET, who had high heterogeneity in clinical spectrum. Cas...

Introduction: 3M syndrome is a rare autosomal recessive condition that causes short stature, unusual facial features and skeletal abnormalities with normal intelligence. Mutations in CUL7, OBSL1 and CCDC8 genes have been identified as pathogenic. GH treatment outcomes for 3M syndrome appear controversial. Use of human recombinant GH for the treatment of short stature has been trialled in previous studies with some suggesting dysregulation in GH/IGF1 axis while others report no...

Background: NICE recommendation is to use multiple daily insulin injections and to offer level 3 carbohydrate-counting education at diagnosis of Type 1 diabetes (T1DM), and at least at annual intervals thereafter. Best Practice Tariff states that every young person with diabetes should be offered at least one additional appointment per year with a paediatric dietitian with training in diabetes. Our aim was to identify details of all the patients in the current cohort who were ...

Background: Previous reports suggest that epilepsy and autism are more common in children with autoimmune diseases such as type 1 diabetes (T1D). While each condition is common in the general population, only small numbers of children have the two conditions together, so there is currently little coordinated support. We sought to describe the incidence in our own population.Methods: Retrospective review of the Diamond database and clinical notes for chil...

Queen’s Medical Centre, Nottingham, United KingdomTyrosinemia type-1 is a rare autosomal recessive disorder. It usually presents in an acute form in early infancy. Rarely, it can also present as a chronic form with gradual onset. The key presenting features are failure to thrive, liver dysfunction and/or Fanconi syndrome. We present a perplexing case of a 2-year-old girl with tyrosinemia type-1, who initially presented with failure to thrive and hypophosphatemic rickets w...