ESPE Abstracts

Background: Poor temperature regulation in Prader–Willi syndrome (PWS) suggests dysautonomia probably secondary to hypothalamic dysfunction. Autonomic nervous system (ANS) has control over orexigenic ghrelin.Objective and hypotheses: We aim to assess ANS function in PWS and its association with acyl ghrelin.Method: We recruited 16 genetically-confirmed children with PWS and 16 controls. Exclusion criteria were diabetes mellitu...

Background: Transition is a difficult period for adolescents with type 1 diabetes. The non-linear development of the adolescent brain along with increasing insulin resistance, increasing autonomy and risk of psychopathology means that adolescents are vulnerable to poor mental and physical health and ensuing deterioration in metabolic control. It is also during this period of turmoil that adolescents often transfer from paediatric to adult services.Object...

Introduction: Empirical research studies suggest that continuous glucose monitoring systems (CGMS) are safe and could optimize neonatal hypoglycaemia management. However, they need to be tested within resource-limited, time-constrained clinical practice. CGMS was piloted in our Level 3 Neonatal Intensive Care Unit (NICU) in June 2017. Five key barriers to its effective implementation were identified: i) Lack of NICU staff confidence in device usage ii) Infant discomfort during...

Introduction: Neonatal ambiguous genitalia can herald sensitive, time-critical, and life-threatening diagnoses and thus paediatric doctors must be competent in their management. However, ambiguous genitalia are rare, limiting clinical exposure. We assessed paediatric doctors’ experience of, knowledge of, and confidence in managing this condition.Methods: A questionnaire was circulated to paediatric doctors at two tertiary and four secondary level pa...

Introduction: The UK 100,000 Genomes Project (100KGP) recently investigated the genetic basis of rare disease using whole genome sequencing. The genetic aetiology of most rare paediatric endocrine disease remains unexplained.Methods: Children with genetically unexplained rare endocrine disease attending a subspecialist paediatric endocrinology clinic underwent whole genome sequencing as part of the 100KGP. Parental DNA w...

Background: Congenital hyperinsulinism (CHI) is a rare condition but a significant cause of recurrent hypoglycaemia in infancy and childhood. Prompt recognition and appropriate management is important to avoid long-term neurological sequelae.Objective and hypotheses: To describe the presentation, clinical and genetic outcomes in a series of infants with CHI.Method: Retrospective case series of 35 patients diagnosed with CHI between...

Background: Ireland has the highest prevalence of Down syndrome (DS) in Europe, affecting ~1 in 500 live births. Patients with DS are at increased risk of developing thyroid disorders during childhood. Hyperthyroidism can be difficult to recognise and treat in this population. First-line therapy with anti-thyroid drugs (ATDs) may help achieve remission, but relapse is common following discontinuation of medication. Definitive treatment with radio ablation or surgery is often c...

Background: Neonatal thyrotoxicosis, a rare and life-threatening condition, is caused by transplacental transfer of thyroid stimulating immunoglobulins from mother to infant. While clinical features may include goitre, prominent eyes and poor weight gain, these may be absent in some cases. Early diagnosis and treatment of affected infants is critical.Objective: We report a case series of infants with neonatal thyrotoxicosis from two tertiary paediatric h...

Objective: Children are usually mildly affected by Severe Acute Respiratory Syndrome Coronavirus 2 infection (SARS-CoV-2, COVID-19). However, the pandemic has impacted negatively on children with non-COVID-19 diseases. We aimed to determine the impact of the COVID-19 pandemic on the presentation of newly diagnosed childhood-onset type 1 diabetes.Methods: This was a cross-sectional study conducted over a one-year period. ...

Background: Steroid therapy has been used as a therapeutic strategy in the management of Paediatric Multisystem Inflammatory Syndrome Temporally associated with SARS-CoV-2 (PIMS-TS) with good effect. However, as always, exogenous steroid administration carries with it a risk of iatrogenic adrenal insufficiency.Aim: We characterise steroid therapy use in PIMS-TS and consider implications for hypothalamic-pituitary-adrenal...