hrp0082p2-d3-481 | Hypoglycaemia | ESPE2014

Presentation, Clinical and Genetic Outcomes in a Series of Infants With Congenital Hyperinsulinism

Carroll Aoife , Gibney Brian , McDonnell Ciara , Moloney Sinead , Monavari Ardeshir , Murphy Nuala

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...

hrp0082p2-d2-601 | Thyroid (1) | ESPE2014

Long Term Anti-Thyroid Drug Therapy in a Paediatric Population with Down Syndrome: an Irish Experience

Johnston Niall , Mavinkurve Meenal , Murphy Nuala , Moloney Sinead , Costigan Colm , Cody Declan

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...

hrp0082p3-d1-977 | Thyroid | ESPE2014

Neonatal Thyrotoxicosis in Maternal Grave’s Disease: a Case Series and Review of the Literature

Johnston Niall , Mavinjurve Meenal , Murphy Nuala , McDonnell Ciara , Moloney Sinead , Cody Declan , Costigan Colm

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...