ESPE Abstracts

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...

Increasing numbers of infants are being born very preterm. These infants require intensive care and have a high risk of mortality and morbidity which has been associated with both hyperglycaemia and hypoglycaemia. In utero, glucose levels are normally maintained between 4–6 mmol/l, but infants born preterm are exposed to significant periods of both hyperglycaemia and hypoglycaemia. Early postnatal glucose control may be an important modifiable risk factor for clinical out...

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...

Background: The effects of metabolic memory highlight the importance of good glycaemic control following diagnosis of type 1 diabetes (T1D). There is relative insulin resistance at diagnosis, particularly in the presence of ketonaemia. Local prescribing guidelines reflect this with higher insulin starting doses with ketonaemia.Objective and hypotheses: Current insulin dosing guidance for children with newly diagnosed T1D appeared insufficient to achieve ...

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...

Many women with polycystic ovary syndrome (PCOS) have a delayed diagnosis after seeing multiple health care providers for their symptoms impacting on their physical and emotional well-being (1). In adolescent girls, PCOS diagnosis is even more controversial and challenging than in adult women yet there have been no studies in adolescents evaluating diagnostic experience, their knowledge and concerns. We aimed to evaluate diagnostic experience and concerns regarding PCOS in an ...

Background: The prevalence of childhood type 1 diabetes mellitus (T1DM) is increasing and the age at presentation is falling. Late presentation with diabetic ketoacidosis (DKA) is more common in younger children who are at increased risk of cerebral oedema.Objective and hypotheses: To describe the clinical presentation of new onset T1DM to our centre and report time to diagnosis, incidence of DKA, requirement for intensive care and complications.<p c...

Background: Ireland has a high incidence of type 1 diabetes in childhood (16.8/100, 000 per year (1). A small percentage of children with diabetes have maturity onset diabetes of the young (MODY) (2). Establishing the correct diagnosis is critical to optimal therapy and future genetic counselling (3).Objective and hypothesis: To review the cohort of children attending our tertiary diabetes service and describe the clinical features of those where MODY wa...

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...