ESPE Abstracts

Children with Type 1 diabetes are experiencing higher levels of overweight and obesity as a consequence of intensive insulin therapy as well as background socioeconomic and environmental factors that are contributing to excess adiposity in the general population. The consequences of obesity in people with type 1 diabetes are of particular concern, as obesity in adults increases the risk of both diabetes-related and obesity-related complications, including cardiovascular diseas...

Background: The hypothalamic-pituitary-adrenal (HPA) axis is vital for stress response and homeostasis. Central adrenal insufficiency (CAI) results from inadequate adrenocorticotropin (ACTH) secretion due to hypothalamic or pituitary disorders, leading to insufficient adrenal cortisol production. CAI manifests in nonspecific symptoms and can cause life-threatening adrenal crises. Diagnostic delays are common due to the nonspecific symptoms, making accurate and...

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...

Background: Gonadoblastoma is a rare tumour of the gonads presenting in childhood or adolescence. It is a lesion composed of a mixture of germ cells at different stages of maturation, with low malignant potential. It is associated with disorders of sex development (DSD), most commonly Turner mosaic syndrome with Y chromosome material (TMSY), and 46XY gonadal dysgenesis (GD). Little is known about the natural history and incidence of this rare tumour.Obje...

Introduction/Background: Non-invasive prenatal testing (NIPT) represents a major development for families affected by rare monogenic conditions by facilitating early prenatal diagnosis without the risks associated with traditional more invasive methods. For most rare diseases NIPT is only available clinically for paternally-inherited variants. One exception is in GCK and HNF4A diabetes, where the detection of a maternally or paternally inheri...