ESPE Abstracts

Background: In children with Prader–Willi Syndrome (PWS), hypothalamic dysfunction plays a key role in the development of aberrant energy regulation, sleep-related breathing disorders, hypogonadism and impaired linear growth. Dysfunction of the hypothalamic–pituitary–adrenal (HPA) axis may contribute to the high incidence of sudden death. The prevalence and the extent of the dysfunction of HPA axis remain unclear.Method: Thirty-one (10M/21...

Background: The positive effect of GH therapy in small for gestational age (SGA) singletons has been shown in previous studies. Little is known about twin growth and GH treatment where only one twin is born SGA.Objective and hypotheses: We present data from two set of twins where one was appropriate for gestational age (control) and the other twin was SGA (treatment).Method: Twin pair 1: male monochorionic diamniotic (MCDA) twins b...

Background: Prader-Willi Syndrome (PWS), is a rare complex, genetic neurodevelopmental disorder characterised by hypotonia, poor feeding, neonatal failure to thrive. Untreated, patients progress to hyperphagia and life-limiting extreme obesity. Growth hormone therapy (GHt) is currently the only licenced therapy in PWS. The consensus statement by Deal et al, suggested GH treatment at around 2-years before the onset of obesity. While there are no data to support...

Introduction and Aim: The Incidence of Type 1 diabetes mellitus (T1DM) varies markedly between populations and over time. Recently a number of high incidence countries, including Ireland, have reported a stabilisation and/or reduction in their T1DM incidence rate (IR) in childhood. Ireland, a high incidence country for T1DM, experienced a dramatic increase in T1DM incidence between 1997 and 2008, a stabilisation in incidence between 2014 and 2018 followed by a...

Aim: The Irish Childhood Diabetes National Register (ICDNR), established in 2008, prospectively collects robust data to monitor the epidemiology of Type 1 diabetes mellitus (T1DM) in children up to the age of 15 years. It is well recognised that the incidence of T1DM in children differs over time and between populations. The recent IDF atlas noted Ireland to have the 10th highest reported T1DM incidence globally. In the Irish population, similar to ...

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 ...

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: Gonadoblastoma is a rare tumour of the gonads presenting in childhood or adolescence. It is a lesion composed of a mixture of germ cells at different stages of maturation, with low malignant potential. It is associated with disorders of sex development (DSD), most commonly Turner mosaic syndrome with Y chromosome material (TMSY), and 46XY gonadal dysgenesis (GD). Little is known about the natural history and incidence of this rare tumour.Obje...

Background: Children born small for gestational age (SGA) exhibit wide variations in the activity of growth hormone (GH)/insulin–like growth factor–I (IGF-I) axis and this heterogeneity may result in supra physiological concentrations of IGF-I during GH treatment. The long-term effects of elevated IGF-I levels has been a matter of concern. We explored the variations in total IGF-I and bioactive IGF-I and the associations with growth and glucose metab...

Background: A common polymorphism in the growth hormone receptor gene (d3-GHR) was found to be associated with pre- and postnatal growth and GH-induced growth. D3-GHR was associated with glucose metabolism in adults with GHD and acromegaly, but this has not previously been explored in children.Objective and hypotheses: We examined the impact of the GHR-exon-3 deletion on glucose metabolism and anthropometrics in short SGA children before and following 1 ...