Endocrine Abstracts

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: The most common form (90%) of CAH is 21-hydroxylase deficiency (21OHD). Management is with hydrocortisone ±fludrocortisone replacement while minimising side effects of androgen excess. Our aim was to review our CAH cohort and describe their characteristics, treatment regimens and growth.Methods: Retrospective data on height, weight, BMI, bone age and biochemical profiles was collected on 26 patients with...

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...

Introduction: Children with adrenal insufficiency require emergency hydrocortisone for serious illness in addition to any regular requirements. Individualised emergency plans for patients during sick days, detailing their oral and intramuscular hydrocortisone requirements, should be maintained, alongside appropriate alerts on hospital and pre-hospital systems to ensure health professionals are aware of their requirements promptly if they present acutely unwell. Following a chi...

Background: NICE guidelines (NG18) state that paediatric patients aged <18 years old with suspected diabetes mellitus (DM) should be immediately referred to specialist care to confirm diagnosis and provide immediate treatment. The Nottingham University Hospitals (NUH) Paediatric Endocrine team advise primary care to investigate suspected hyperglycaemia using a POCT (point of care testing) glucose meter at the primary care facility to avoid the delay incurred by sending a s...

Aim: To compare the BMI z-score of children with type 1 diabetes (T1DM) in Nottingham with that of national and local background populations and to identify factors associated with increased BMI.Methods: A retrospective observational cohort study of patients with T1DM aged 2–15 years under the care of the paediatric diabetes team at Nottingham Children’s Hospital, between April 2013 and March 2014. Mean BMI-z-score for the year was com...