ESPE Abstracts

Background: Gonadoblastoma is a rare tumour of the gonads presenting in childhood or adolescence. It is a lesion composed of a mixture of germ cells at different stages of maturation, with low malignant potential. It is associated with disorders of sex development (DSD), most commonly Turner mosaic syndrome with Y chromosome material (TMSY), and 46XY gonadal dysgenesis (GD). Little is known about the natural history and incidence of this rare tumour.Obje...

Background: Children born small for gestational age (SGA) exhibit wide variations in the activity of growth hormone (GH)/insulin–like growth factor–I (IGF-I) axis and this heterogeneity may result in supra physiological concentrations of IGF-I during GH treatment. The long-term effects of elevated IGF-I levels has been a matter of concern. We explored the variations in total IGF-I and bioactive IGF-I and the associations with growth and glucose metab...

Background: A common polymorphism in the growth hormone receptor gene (d3-GHR) was found to be associated with pre- and postnatal growth and GH-induced growth. D3-GHR was associated with glucose metabolism in adults with GHD and acromegaly, but this has not previously been explored in children.Objective and hypotheses: We examined the impact of the GHR-exon-3 deletion on glucose metabolism and anthropometrics in short SGA children before and following 1 ...

Background: There is wide heterogeneity in responses to GH treatment in children born small for gestational age (SGA).Objective and Hypotheses: The aim was to explore the impact of genetic markers on glucose metabolism and growth during first year high-dose GH treatment in SGA children.Method: In North European Small for Gestational Age Study (NESGAS) patients received high-dose GH (67 μg/kg per day) the first year. 97 patient...

Introduction: Differentiation of the external genitalia depends on serum androgen concentrations in the foetal life. The classic form of Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency (21OHD) is the most frequent cause of female genital ambiguity. It is an autosomal recessive disorder due to CYP21A2 mutations that are classified in groups based on their in vitro residual enzymatic activity. The phenotype usually is predicted by the less severe mutatio...

Background: 16p11.2 microdeletion is most common chromosomal anomaly associated with syndromic obesity. The presence of a large number of flanking segmental duplications/low-copy repeat sequences with a high degree of sequence identity in the short arm of chromosome 16 (16p) leads to recurrent deletions and duplications as a consequence of non-allelic homologous recombination. A recurrent 600kb microdeletion is one of the most frequent genomic imbalances in 16...

Background: Nail-Patella syndrome (NPS) or hereditary onycho-osteodysplasia (OMIM: 161200) is an autosomal dominant disorder characterized by nail and elbow dysplasia, patellar aplasia or hypoplasia, nephropathy and intra-ocular hypertension. The diagnosis confirmes by pathogenic variant in the LMX1B gene. There are reports of short stature in patients with this syndrome, however, data of the use of somatropin have not been presented. We describe the ...

Background: Physical activity (PA) has been conclusively shown to reduce the incidence of diabetes in prior research. A 2,000 steps/day increment yielded hazard ratio (HR) 0.88 for incidence of diabetes 95% CI 0.78–1.00; P=0.046 (Garduno, 2022). Despite this, the role of different factors associated with higher adolescent after-school PA is understudied after the coronavirus pandemic, during which a greater proportion of parents worked remotely....

Novel CNS imaging techniques is a fast advancing field with frequent new developments in scanner’s hardware, protocols, clinical indications, and post-processing techniques. These techniques are designed to focus on the assessment of functional tissue characteristics, such as neuronal activity (functional MRI- fMRI), microstructural properties (diffusion tensor imaging-DTI) and tissue perfusion (DSC perfusion, ASL). fMRI reveals brain activation during performance of beha...

High-throughput biomolecular (omic) analyses enabled the simultaneous quantification of hundreds or thousands of transcripts, proteins, metabolites in a biological system, contributing to the identification of discriminatory multi-component molecular profiles of a pathophysiology. Molecular quantities being interconnected, even subtle differences in one can carry significance if viewed in the context of the observed changes in the rest of the molecules. We can now view molecul...