hrp0082fc1.2 | Adrenal | ESPE2014

Clinical Phenotype of Patients with MCM4 Mutation Suggests Pubertal Delay in Males in Addition to Adrenal Failure, Absent Adrenarche, and Short Stature in Boys and Girls

Hughes Claire , Clark Adrian , Metherell Louise , Costigan Colm

Background: We previously reported the first human mutation in mini-chromosome maintenance homologue 4 (MCM4) in a cohort of patients with adrenal failure, immunodeficiency and chromosomal fragility.Objective and Hypotheses: To report the full endocrine phenotype of 14 patients with MCM4 mutations.Method: Patients case notes were examined and investigations performed to fully assess adrenal function, pubertal development, gonadal f...

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...

hrp0082p1-d3-88 | Diabetes (2) | ESPE2014

Improved Health-related Quality of Life with Insulin Therapy in Children with Cystic Fibrosis-related Diabetes: a Prospective Cohort Study

George Sherly , Hoey Hilary M C V , Costigan Colm , Murphy Nuala , Roche Edna F , O'Riordan Stephen M P

Background: Cystic fibrosis-related diabetes (CFRD) is a common complication in cystic fibrosis (CF). CFRD symptoms and treatment may impose additional burden and adversely affect their QoL.Objective and hypotheses: Assess HRQoL in CF children with normal glycaemia (CFN) and CFRD and evaluate the change in HRQoL over 1 year period along with clinical changes.Method: A prospective study was undertaken including children aged 10&#150...