ESPE Abstracts

Introduction: Familial hypercholesterolaemia(FH) is a genetic disorder affecting approximately 1 in 250 people, resulting in high levels of low-density lipoprotein Cholesterol(LDL-C), increasing the likelihood of developing cardiovascular disease(CVD) at a younger age. Lipoprotein (a)(Lp(a)) is another risk factor for atherosclerosis, elevated in 20-25% of people and 90% genetically determined, only slightly reduced by diet, exercise and medication.<p clas...

Background: Digital health solutions, such as the Growzen™ buddy smartphone application (app), can facilitate adherence to recombinant human growth hormone (r-hGH) treatment for patients with growth disorders. The app alerts patients when it’s time for an injection and allows patients and their caregivers to self-monitor growth, to build a routine and improve adherence. The app also contains educational resources to empower patients to be active in...

Background: It has been reported that 25–75% of patients with diagnosis of growth hormone deficiency (GHD) may show normal growth hormone (GH) responses in repeated stimulation tests after completion of treatment. Retests are typically conducted following completion of growth phase. In a small number of studies retests are conducted during early stages of GH therapy. Accuracy of early retesting to exclude GHD can be evaluated by adult heights of those wh...

Background: short stature can lead to emotional and social stress in children and adolescents. We previously demonstrated in a cohort of 74 children that a one-year growth hormone treatment (GHT) is associated with a significant improvement of quality of life (QoL) especially on emotional and social scales, both in general (PedsQL 4.0) and height-specific (QoLiSSY) questionnaires. Whether this improvement is sustained until adult height remains to be documente...

Background: Aggrecan (ACAN) is a proteoglycan found in the extracellular matrix of articular and growth plate cartilage. Animal studies have shown that mutations in the ACAN gene lead to premature hypertrophic chondrocyte maturation, causing accelerated cartilage ossification. Patients with ACAN deficiency present with dominantly inherited short stature, often with advanced skeletal maturation and premature growth cessation, as well as early-onset joint diseas...

Introduction: Among children with short stature, some show persistent IGF-I levels <-2.0 SDS despite a normal growth hormone (GH) response in a stimulation test. This may be caused by conditions that could benefit from recombinant human GH (rhGH) therapy (e.g. GH neurosecretory dysfunction, bioinactive GH, partial GH insensitivity). Therefore, the IGF-I generation test (IGFIGT) was implemented in 2006 using a national, standardized protocol. Children with a...

Purpose: Both timing of menarche and growth patterns have changed with time. Menarche is supposed to important role in pediatric linear growth. This study is aimed to investigate the relationship between the timing of menarche and pubertal growth, specifically to analyze when menarche occurs related to the pubertal growth spurt, and how the pubertal height gain is related to the timing of menarche.Method: From January 20...

Background: Hypothalamic dysfunction (HD) is life-threatening but precise diagnostic tools are lacking. Normal hypothalamic anatomy is difficult to delineate on MRI. Damage to the area is inferred from a visible lesion, but how widely it disturbs signalling connections or correlates with symptoms is unclear. Furthermore, in congenital/syndromic diseases the hypothalamus appears normal even in cases with clear HD. We aimed to develop novel clinical and radiolog...

Background: XLH is a rare, genetic, life-long disease caused by PHEX pathogenic variants. It is associated with progressive accumulation of musculoskeletal features and symptoms that evolve across the patient’s lifetime if untreated. Although the disease is well characterised in children and adults, there are limited data describing the health outcomes and experiences of adolescents, particularly at end of skeletal growth (EOSG), a crucial phase during t...

In children and adolescents, vitamin D deficiency negatively affects muscle physiology, exposing them to increased muscle damage and pain, stress fractures, and tendon structures. In addition, free radicals released when the body is exposed to oxidative stress after exercise can cause DNA damage. Vitamin D plays an important role in removing these radicals. The purpose of this study is to investigate the relationship between physical activity and 25- OH vitamin D in obese chil...