ESPE Abstracts

X-linked hypophosphatemia (XLH, MIM 307800) is a rare hereditary disorder of bone metabolism characterized by growth impairment, leading to bone deformities and short stature and beside others to muscle function deficits. XLH is caused by defect of endopeptidase PHEX leading to high levels of FGF-23 and thereby renal phosphate wasting. While conventional treatment includes substitution of phosphate and 1-25 OH-Vitamin D, now a treatment with a FGF-23 antibody (burosumab) is av...

Objective: Osteogenesis imperfecta is an inherited disorder characterised by bone fragility. Antiresorptive treatment with bisphosphonates is a well-established first line medical treatment in OI types III/IV. Nevertheless, there is no consensus on treatment modalities, like which bisphosphonate to use in which dose and when to initiate treatment. The objective of this work was to evaluate the therapeutic effect of a one-year treatment period with bisphosphona...

Object and Aim: The quality of metabolism in type 1 diabetes depends on different external factors, e.g. the circumstances of living of a patient. We investigated how far the family status, living situation or own children have influence on metabolic control in patients who were transferred to adult care after long-term care in pediatric diabetology.Patients and Methods: From 1998 until 2019 we annually sent a questionna...

Introduction: Gain-of-function mutations in the STAT-3-Gene are associated with multisystemic autoimmune disease. The spectrum of disorders described in this context is highly variable and includes lymphoproliferative disease and (poly-) autoimmune endocrinopathies.Case History: A three-year-old boy was admitted with acute liver failure of unknown cause, necessitating a liver transplant. His medical history included cong...

Background: Klinefelter syndrome (KS) is associated with an increased metabolic and cardiovascular risk profile1,2 and a metabolic syndrome is evident at a prepubertal age in 10% of the affected boys. Boys with KS tend to avoid competitive sports and describe themselves as ‘not good at sports’. Cardiopulmonary fitness in adults with KS has been found to be compromised by chronotropic insufficiency (CI) and a reduced maximal oxygen uptake...

Introduction: Vitamin D status is investigated as a modifier for the risk and course of multiple malignant diseases. Findings point towards a detrimental role of low vitamin D levels for event free and overall survival (EFS/OS). However, vitamin D deficiency is often associated with secondary hyperparathyroidism, which may influence EFS/OS in childhood malignancies.Methods: Real world data from 1547 cases (873 male) of c...

Introduction: Sex chromosome abnormalities (SCAs) are genetic conditions characterized by deviations in the number or structure of the sex chromosomes, present in 1 in 400 newborns. Despite their clinical significance, many patients with SCAs are diagnosed late in life or remain undiagnosed, leading to delayed or inadequate medical intervention. Karyotyping, the gold standard for diagnosis, is unsuitable for population-based newborn screening, as it is time-co...

Background: The female gonadal axis is activated in mini-puberty and thereafter it is quiescent until puberty. We have shown that many girls with no clinical sign of puberty in the age group 1-6 yr. have a rather strong luteinizing hormone (LH) and follicle stimulating hormone (FSH) response to a gonadotropin releasing hormone (GnRH) test. However, stimulated LH and FSH values decreased in the age interval 1-6 yr and no LH/FSH values rose above 0.43. Serum est...