ESPE Abstracts

Hypoplastic left heart syndrome (HLHS) is one of the most severe congenital heart defects. Despite medical progress, HLHS patients remain at risk of many complications of this cardiac defect and cardiac surgery, including growth failure. Some of them can be treated with recombinant human growth hormone (rhGH) fulfilling criteria of GH–deficiency (GHD) or having a history of intrauterine growth restriction or small for gestational age (SGA). We assessed the effectiveness ...

Introduction: Anastrozole, an aromatase inhibitor, prevents the conversion of androgen to oestrogen, which is required for the adolescent growth spurt and the attainment of peak bone mass. Anastrozole may help minimise bone age (BA) advancement in conditions associated with adrenal androgen excess, such as congenital adrenal hyperplasia (CAH) and premature adrenarche.Objectives: 1. To describe baseline characteristics an...

Background: Severe primary insulin-like growth factor-1 deficiency (SPIGFD) is a rare growth disorder characterised by severe short stature. Replacement therapy with recombinant human IGF-1 (rhIGF-1; mecasermin [Increlex®]) is currently the only available treatment for children/adolescents with SPIGFD. We describe the methodology of the Global Increlex Patient Registry (NCT00903110), designed to monitor long-term safety and effectiveness of meca...

Type 1 diabetes (T1D) is a chronic disease characterized by the autoimmune destruction of pancreatic β cells. This destruction is mediated by lymphocytes T helper and cytotoxic, and by the action of the pro-inflammatory cytokines IL1β, IFNγ and TNFa inside the islets of Langerhans. We propose a new approach to alleviate islet inflammation by targeting pro-inflammatory cytokine receptors. Our hypothesis is that the downregulation of inflammatory pathways ma...

Background: The EU-IGFD registry was established to monitor the safety and effectiveness of recombinant human IGF-I (rhIGF-I) (mecasermin (rDNA origin) injection; Increlex®) for short stature in children with SPIGFD, including those with Laron syndrome (LS).Objective: To report patient characteristics, effectiveness and safety data in clinically relevant patient subgroups.Methods: Data were compiled from this ongoin...

Background: The EU-IGFD registry comprises data for children with severe primary IGF-I deficiency (SPIGFD) receiving rhIGF-I (mecasermin [rDNA origin] injection; Increlex®) for growth failure.Objective: To report patient characteristics, effectiveness and safety data for children receiving rhIGF-I for SPIGFD and achieving AH.Methods: Patients from this ongoing observational study (NCT00903110) were included in analy...

Childhood-onset growth hormone deficiency (CO-GHD) is topical at present due to the increasing understanding of underlying genetic aetiologies, influence on childhood growth, and future effects on adolescence and adult health. There is no previous Irish data of this group of children.Methods: A retrospective cohort study over 2 years (2013-2015) including all children diagnosed with GHD who received recombinant growth hormone treatment (rGH). Predictors ...

The WT1 gene has a crucial role in the genesis of the bipotential genital ridge and subsequently in the specification of the Sertoli cells of testis. Mutations involving the WT1 gene are associated with a wide range of phenotypes impacting testis-determination and development including Denys-Drash syndrome, Frasier syndrome and Meacham syndrome. Here, we describe two sibs with DSD carrying a de novo mutation in the WT1 gene. A girl was born with Prader IV intersex genitals. Cy...

Background: The post-authorization registry, EU-IGFD, was initiated in Dec-2008 to collect data in children with growth failure receiving Increlex® (Mecasermin [rDNA Origin] Injection).Objective and hypotheses: To report patient characteristics, safety and effectiveness data in poor-responders (i.e. with change in year 1 Height SDS <0.3).Method: European, multicentre, open-label, observational study; eCRF data collection.<...

Background: Congenital adrenal hyperplasia (CAH) can present with salt loss, hyperkalemia and arrhythmias in the neonatal period. If CAH is not diagnosed and treated early, neonates are susceptible to sudden death in the first few weeks of life. This problem is particularly critical in boys who have no genital ambiguity to alert physicians before the onset of dehydration and shock.Objective and hypotheses: We recommend that a diagnosis of CAH be consider...