ESPE Abstracts

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...

Background: Both CYP24A1 and SLC34A1 gene mutations are responsible for idiopathic infantile hypercalcemia (IIH). Whereas loss-of-function mutations in CYP24A1 (25-OH-vitamin D-24-hydroxylase) lead to a defect in the inactivation of active 1,25(OH)2-vitamin D3, mutations in SLC34A1 encoding renal sodium-phosphate co-transporter NaPi-IIa lead to primary renal phosphate wasting combined with an inappropri...

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: Bisphosphonates have been used for treatment of bone fragility disorders for over 25 years to increase bone mineral density (BMD). Anecdotally, bisphosphonate-treated Osteogenesis Imperfecta (OI) has a different trajectory to the natural history of untreated OI, with minimal published evidence to support this clinical observation.Aims: To describe functional outcomes of a cohort of adults with OI, stratified according to severity and treated ...

Introduction: Hyperinsulinemic hypoglycaemia (HH) is the most frequent cause of persistent hypoglycaemia in neonates and infants. The most severe forms of HH are inherited and referred to as Congenital Hyperinsulinism (CHI). Hypoglycaemia is the main feature of CHI, and early diagnosis and immediate management are essential to reduce the high risk of neurological damage. Diazoxide is the mainstay of medical treatment, with surgery being an option in appropriate cases.<p cl...

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...

Introduction: Of any pituitary dysfunction following brain injury, growth hormone (GH) deficiency (GHD) is the most prevalent. The cut-point for defining GHD has been placed at 7 ng/mL representing optimum test performance. We hypothesised this cut-off may be set too low for genetically taller children with acquired brain injury, notably brain tumours, who demonstrate severe growth failure but repeatedly fail to meet diagnostic thresholds for GH replacement until several centi...

Backround: Menstrual disorders are common among the adolescent girls. We examined the initial investigations performed in adolescents, presenting with frequent, heavy or painful periods. Although, usually abnormal uterine bleeding (AUB) in adolescent women is attributable to immaturity of the hypothalamic-pituitary-ovarian axis, underlying conditions such as coagulation disorders and anemia should always kept in mind. However, neither the laboratory nor the ultrasound investig...

Background: The diagnosis of Growth Hormone Deficiency (GHD) involves the use of GH stimulation tests that require day case admission, multiple blood sampling and are associated with significant adverse effects.Aim: To assess the utility of gene expression (GE) profiling and candidate SNP analysis for the diagnosis of and classification of GHD.Method: Pre-pubertal treatment-naïve children with GHD (n=98) were enrolled from the...

Background: EPIGROW was a prospective European epidemio-genetic study in children with idiopathic short stature (ISS).Objectives: To identify (1) differences in frequencies of single nucleotide polymorphisms (SNPs) in growth related genes between ISS children and controls, and (2) associations between growth characteristics, IGF status and SNPs in these genes.Methods: Sequence data from EPIGROW was used to determine the difference ...