hrp0089p2-p271 | Growth & Syndromes P2 | ESPE2018

Unexpected Growth Patterns in Branchio-Oto-Renal Syndrome

Clarke Emma , McDonnell Ciara

Background: Branchio-oto-renal (BOR) syndrome is a rare inheritable condition affecting the ears, 2nd branchial arch structures and the urinary system. Recognised features include hearing loss, structural defects of the ear, branchial defects, and a variety of renal malformations. Causative genetic variants have been identified as SIX1 and EYA1, accounting for approximately 49% of all cases of BOR syndrome. Short stature has not commonly been described in BOR syndrome, but is ...

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...

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...

hrp0084p2-289 | Diabetes | ESPE2015

Longitudinal Study of Irish Children and Adolescents on Continuous Subcutaneous Insulin Infusion

Bohane Mary-Ellen , McGrath Niamh , Carroll Aoife , Devenney Dympna , McDonnell Ciara , Murphy Nuala

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...

hrp0094p2-262 | Growth hormone and IGFs | ESPE2021

A Survey on Clinician Perceptions of Long-Acting Growth Hormone Analogs

Howard-James Naomi , Padidela Raja , Raimann Adalbert , Gevers Evelien , Semler Oliver , McDonnell Ciara ,

Background: Daily recombinant human growth hormone (rhGH) has been utilized since 1985 and has been proven to increase height velocity and improve body composition in growth hormone deficiency, various genetic syndromes and chronic kidney disease. Safety and efficacy are well established. Long-acting growth hormone (LAGH) analogs have been developed to improve compliance and patient experience. There are several LAGH preparations in development or early commer...

hrp0089p1-p065 | Diabetes & Insulin P1 | ESPE2018

Evaluation of Diabetes Related Complications and Endothelial Dysfunction in Adolescents with Type 1 Diabetes

Metwally Nehad , Macken Alan , O'Regan Myra , Fitzgerald Helen , McDonnell Ciara , O'Gorman Clodagh S , Molloy Eleanor , Roche Edna F

Introduction: Patients with type 1 diabetes (T1D) are at high risk of developing vascular complications. Endothelial dysfunction is considered the early reversible stage in the development of diabetes related vascular disease. Early detection and management of endothelial dysfunction can delay or even prevent the development of vascular complications.Aim: Endothelial dysfunction is associated with poor metabolic control in adolescents with T1D. Based on ...

hrp0094p2-332 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Evaluating Safety, Efficacy, and Pharmacokinetics of Weekly TransCon CNP in Children with Achondroplasia: Design of the ACcomplisH Trial

McDonnell Ciara , Irving Melita , Zarate Yuri , B. Hove Hanne , Hogler Wolfgang , Hoernschemeyer Daniel , Zhang Ying , Viuff Dorthe , Hartoft-Nielsen Marie-Louise , Beckert Michael , Savarirayan Ravi ,

Achondroplasia (ACH) is the most common form of dwarfism, occurring in 1: 20,000 births. ACH is caused by gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene that interfere with endochondral ossification. Clinically significant morbidities are frequent in ACH; however, there are currently no approved therapies that target the underlying pathobiology. C-type natriuretic peptide (CNP) is an attractive target as it has the potential to inhi...