ESPE Abstracts

Background: Preterm survivors are found to exhibit deficits in several neurodevelopmental domains. It is unknown whether this could be explained by antenatal glucocorticoid treatment.Objective and Hypotheses: We studied whether antenatal glucocorticoid treatment is associated with behaviour and IQ in young adults born preterm. In addition, we studied whether these associations could be modified by the R23K and N363S polymorphisms in the glucocorticoid re...

Background: Prader–Willi syndrome (PWS) is caused by absence of expression of imprinted genes on the paternal chromosome 15 (15q11.2–q13) due to a paternal deletion, maternal uniparental disomy 15 and rarely an imprinting defect. The clinical signs of PWS are hypotonia, muscle weakness, excessive eating, morbid obesity, delayed global development, hypogonadism, and short stature. Marfan syndrome is caused by mutations in the FBN1 gene, located on chromosome ...

Background: Pubertal children born small for gestational age (SGA) with a poor adult height (AH) expectation can benefit from treatment with GH 1 mg/m2 per day (~0.033 mg/kg per day) in combination with 2 years of GnRH analogue (2 years GnRHa) and even more so with 2 mg/m2 per day (~0.067 mg/kg per day). Concerns haven been raised about the effects of GH and GnRHa on insulin sensitivity on the long-term.Objective and hypotheses: To ...

Background: Increased cerebrovascular morbidity and mortality was reported in adults who were treated with growth hormone (GH) during childhood, including those born SGA, compared to the general population. However, previous studies did not have an appropriate control group of untreated SGA adults which was a major limitation.Objective: To assess cerebrovascular abnormalities (aneurysms, previous intracerebral hemorrhage...

Background: Adults with CF show a higher rate of osteoporosis compared to healthy adults. Achieving proper bone mass is a process starting in childhood. We aimed to evaluate the prevalence of decreased bone mineral density (BMD), changes during puberty and risk factors for low BMD in children and adolescences with CF in a large Dutch cohort.Patients and methods: A retrospective observational cohort study was performed in...

Background: Although motor performance is often impaired in patients with Turner syndrome, the exact prevalence of motor problems is unknown. Detailed studies on specific motor profiles are lacking and the exact relationship between performal IQ and motor function is unknown.Aims and objectives: 1. To describe motor performance in our population of children and adolescents with Turner syndrome including the differentiation in specific motor skill domains...

Background: Heterozygous pathogenic variants in the ACAN gene underlie disproportionate short stature with characteristically accelerated bone age (BA) maturation and/or osteochondritis dissecans (OD)/early-onset osteoarthritis (OA).Objective: To describe the phenotypic spectrum and assess the response and safety of growth hormone (GH) treatment in children with a heterozygous pathogenic ACAN variant.</...

Background: Being born small for gestational age (SGA) has been associated with a reduction in health-related quality of life (HRQoL) and more problem behaviour. Growth hormone (GH) treatment, which leads to a significant improvement in adult height (AH), improves HRQoL and decreases problem behavior in SGA children. However, such results are very limited in SGA adults who were treated with GH during childhood.Objective:...

Objectives: Somatrogon is a long-acting recombinant human growth hormone (GH) approved by the EMA as a once weekly treatment for children with pediatric GH deficiency (GHD). A global phase 3 study compared the efficacy and safety of once-weekly somatrogon with once-daily Genotropin in pediatric subjects with GHD. The objective of this subgroup analysis was to evaluate the efficacy and safety of once-weekly somatrogon vs once-daily Genotropin in the subset of A...

Research Aim: Diabetes type 1 can negatively influence testicular function and fertility but the pathomechanisms on the testicular level remain to be elucidated. Therefore, the aim of the study was to evaluate effects of diabetes mellitus type 1 disease on testicular function.Material and Methods: BB/OKL rats developed type 1 diabetes during adolescence. Rats were treated with different Insulin implants to achieve suffic...