ESPE Abstracts

Background: Early recognition and treatment of cystic fibrosis related diabetes (CFRD) significantly improves respiratory and nutritional status of patients with cystic fibrosis (CF). American Diabetes Association (ADA) guidelines recommend annual screening with oral glucose tolerance test (OGTT) for all affected children from age 10 years.Objective and hypothesis: We sought to determine if screening for CFRD was optimal and to determine if early treatme...

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...

Background: Early establishment of good metabolic control with intensive insulin therapy can reduce the incidence and delay the progression of complications in type 1 diabetes (T1D) mellitus.Objective and hypotheses: To investigate the long-term outcomes of all children and adolescents started on continuous subcutaneous insulin infusion or pump therapy in our tertiary centre.Method: All children with T1D who started on continuous s...

Background: Newborn screening for congenital adrenal hyperplasia (CAH) has been shown to reduce time to diagnosis, and thus morbidity and mortality. Internationally, newborn screening for CAH continues to expand and screening techniques have improved, with the implementation of second-tier testing and use of gestational age stratification. The aim of this study was to examine the incidence and spectrum of early clinical presentations of CAH in an unscreened po...

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...

Background: Pituitary gland duplication is a very rare developmental abnormality. It is often associated with other midline anomalies including cleft palate, spinal cord and corpus callosum defects, termed duplication of the pituitary gland-plus syndrome. Of the only 40 cases reported in the literature, most are in females and are often associated with precocious puberty. Duplication of the pituitary gland may arise from blastogenesis defects, with splitting o...

Background: Boys affected with Duchenne Muscular Dystrophy (DMD) have lower bone mineral density compared with unaffected boys.Objective and hypotheses: We sought to determine the effects on bone mineral density (BMD) of 1 year treatment with Risedronate and calcium/vitamin D supplementation vs calcium/vitamin D supplementation alone.Method: BMD was measured at spine and whole body. We obtained early morning fasting blood samples f...

Objective: The complex clinical phenotypes arising from HNF4A and HNF1A mutations are similar and include diazoxide-responsive CHI from infancy and maturity-onset diabetes of the young (MODY) from adolescence. We aimed to characterise the clinical and genetic aspects of a cohort of paediatric patients with HNF4A or HNF1A mutations.Methods: Patients from five international centres over ...