Endocrine Abstracts

Background: The National Paediatric Diabetes audit (NPDA) reports increasing number of children and young people with type 2 diabetes (CYP2D). CYP2D are less likely to receive all recommended health checks compared to those with type 1 diabetes (33% vs 59% respectively) and do not receive treatment for complications even when they are identified (T2D spotlight audit 2019/20). We assessed variation in care across different units against the national T2D guideli...

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:<...

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...

The European Academy of Andrology (EAA) recently published consensus guidelines aiming to standardize the care provided to patients with Klinefelter syndrome (KS) across different stages of development. In this retrospective cross-sectional study, we reviewed the clinical care provided to 76 KS patients at Nottingham University Hospitals between 2000 and 2020.Methods: Data regarding age at presentation (n=30 paediatric, adult 46...

Background: The COVID-19 pandemic led to major changes in the pattern of presentation to Emergency Departments. This prompted concern within Paediatrics that this altered behaviour could lead to delays in the diagnosis of life-threatening conditions such as type 1 diabetes. A multicentre study was conducted to determine the incidence, referral patterns and severity of disease at presentation of this condition. Methods: This was a U.K.-based multi-centre ...

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...