ESPE Abstracts

Background: Ten percent of children born small for gestational age fail to catch-up and remain short during childhood (SGA-SS). Several genes causing SGA-SS have been described, however, in most cases, the mechanisms of prenatal and postnatal growth impairment remain unknown.Aim: To decipher genetic etiologies within a large single-center cohort of SGA-SS children in order to better understand the pathophysiological mech...

Introduction: In 1950s - 1960s, the thalidomide disaster resulted in congenital malformations in more than 10,000 children. Derivative of thalidomide interferes with early embryonic transcriptional regulation due to selective degradation of SALL4 protein and thus, thalidomide embryopathy phenocopies pathogenic variants of the SALL4 gene. Their phenotypes range from phocomelia, reduced radial ray, to defects of the heart, kidneys, eye, and cerebral mid...

Introduction: Primary multiple pituitary hormone deficiency (MPHD) is caused by impaired development of the pituitary gland during the intrauterine period. Pathogenic variants in numerous genes affecting pituitary morphogenesis or differentiation have been proven to cause MPHD. However, in most people, genetic examination still fails to bring a conclusive finding explaining the cause of MPHD. The aim of our study was to identify the genetic aetiology of MPHD u...

Objective: This feasibility study aimed to investigate the anabolic effect of insulin on metabolites captured in exhaled breath during acute diabetic ketoacidosis (DKA) for a better pathophysiological understanding.Research Design and Methods: Children and adolescents with type 1 diabetes (T1D) with DKA (n=5) and without DKA (n=7) and children with epilepsy without ketogenic diet (n=18) were re...

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: Klinefelter syndrome (47,XXY; KS) influences neurodevelopment, resulting in a neurocognitive profile with a more pronounced impact on verbal IQ compared to performance IQ. Additionally, KS is linked to changes in the epigenome and transcriptome. The relation between these epigenetic and genetic changes and the neurocognitive phenotype has yet to be determined.Methods: We conducted a comprehensive and integrat...

Introduction: Diagnosis of growth hormone (GH) deficiency is known to have unreliable results, especially due to low specificity of GH stimulation tests. Children diagnosed with GH deficiency (GHD) therefore form a heterogeneous group with a cause frequently unrelated to GH secretion or function. On the other hand, children with extremely low maximal stimulated GH concentrations (<3 ug/L) are believed to have “real” GH deficiency (GHD). However,...

Background & Aim: The national Danish assessment and hormone treatment program for transgender adolescents started in 2016 and follows international guidelines. We aim to investigate the effects of hormone therapy on the sex steroid metabolite profile and gonadotropins.Methods: This observational study includes 219 transgender adolescents who started hormone therapy before 18 years of age comprising 55 individuals as...

Introduction: Achondroplasia is the most common skeletal dysplasia, caused by a pathogenic FGFR3 variant, leading to impaired endochondral bone growth and multiple medical complications. Vosoritide, a modified recombinant human C-type natriuretic peptide (rhCNP), was first approved by the European Medicines Agency in August 2021 and is now approved for treating genetically-confirmed achondroplasia in patients aged ≥4 months until closure of epiphys...

Background: Cardiovascular risk factors largely determine morbidity and mortality in people with type 1 diabetes (T1D). Hyperlipidemia, especially in pediatric patients, is often undertreated, although it can lead to premature atherosclerotic changes. While non-HDL-C (non-HDL-cholesterol) is an important risk factor for cardiovascular events in patients with diabetes, guidelines only define LDL-C treatment targets. According to current ISPAD guidelines, childr...