ESPE Abstracts

Introduction: There are well described sex differences in the immune system. It has been shown in both innate and adaptive immunity that females have a more robust response than males. Various autoimmune diseases have a strong sex bias towards females. It is the accepted dogma that oestrogen in females relates to an increased risk of autoimmunity, but evidence to this end is scarce. Interferon alpha (IFNα) is a potent anti-viral innate cytokine, and many autoimmune diseas...

Objectives: The recently updated clinical practice guidelines for Turner syndrome (TS) recommend a growth hormone (GH) dose of 45–50 μg/kg/day, increasing to 68 μg/kg/day in case adult height potential is substantially compromised (1). Real-world data on the modifiable factors impacting near-adult height in GH-treated TS patients are limited, but short-term responsiveness to GH has been suggested as one factor (2). We, therefore, analysed the impact of GH dose o...

Background: NordiNet® International Outcome Study ([IOS]; NCT00960128), a non-interventional study (2006–2016), assessed the effectiveness and safety of real-world treatment with Norditropin®. Outcomes were assessed in children with growth hormone deficiency (GHD), born small for gestational age (SGA), Turner syndrome (TS), chronic renal disease (CRD), idiopathic short stature (ISS), Noonan syndrome (NS) and Prader-Willi syndrome (PWS)....

Background: Exercise programs are related to the anabolic function of GH/IGF-I axis.Objective and hypotheses: To analyse IGF-I, IGFBP-3 and ALS serum concentrations in adolescent swimmers at different stages of training season, and compare them with physical performance and body composition.Method: Nine male athletes, aged 16–19 years, who trained regularly throughout the season, were studied. IGF-I, IGFBP-3 and ALS were recor...

Background: NordiNet® IOS (NCT00960128), a non-interventional study, collects long-term effectiveness and safety data of GH (Norditropin®, Novo Nordisk) treatment in everyday clinical practice.Objective and hypotheses: Identify paediatric patients more likely to experience a second adverse event (AE).Method: Based on diagnosis at GH treatment start and associated risk for mortality, patients were cla...

Background: Genetic defects in the insulin receptor (INSR) are rare. Precise prevalence is unknown and significant clinical heterogeneity exists. Over 120 allelic variants have been described to date, spread throughout the receptor, and few geographical founder effects have been described. In this case series we identify a novel missense mutation in the tyrosine kinase domain of the INSR in three independently ascertained Irish families.Objective and Hyp...

Background: Steroid 17-hydroxylase deficiency (17OHD) (OMIM 202110) is a rare form of congenital adrenal hyperplasia caused by loss-of-function mutations in the 17α-hydroxylase (CYP17A1) gene. CYP17A1 is a key enzyme in the biosynthesis of adrenal and gonadal steroid hormones facilitating both 17α-hydroxylase and 17,20-lyase activities. The CYP17A1 gene is located on chromosome 10 and has eight coding exons. Herein, the molecular basis of 17OHD in a...

Background: Robot assisted therapy has the potential to provide emotional and educational support to young patients with type 1 diabetes (T1DM).Objective: To investigate the attitudes of children and young people with T1DM and that of their parents towards the concept of utilising a humanoid robot as an assistant in the management of their diabetes.Methods: A humanoid robot programmed to help self-management of T1DM at home was int...

Background: X-linked AHC is a rare disorder of the adrenal cortex caused by mutations in the NR0B1 (DAX1) gene. NR0B1 (DAX1) encodes for an orphan nuclear hormone receptor which is expressed in the adrenal, gonad, hypothalamus, and pituitary glands. Hypogonadotropic hypogonadism (HH) is the most frequently observed puberty disorder (absent or delayed puberty) caused by mutations in the NR0B1 (DAX1) gene and is due to impaired gonadotropin synthesis a...

Background: The WDR11 gene was recently involved in the pathogenesis of isolated hypogonadotropic hypogonadism (IHH). In 2010, Kim et al. (1) identified five different heterozygous missense WDR11 rare variants in six of 201 IHH patients (five normosmic IHH and one Kallmann syndrome), which were absent in more than 400 controls. Animal studies demonstrated that WDR11 interacts with EMX1, a homeodomain transcription factor involved in the development of olfacto...