ESPE Abstracts

Background: Vitamin D is a pleiotropic hormone the deficiency of which is related with extraskeletal manifestations such as insulin resistance and cardiovascular risk disease.Objective and hypotheses: To investigate the levels of VitaminD in a sample of children with obesity and to evaluate the relationship between carbohydrate metabolism and metabolic syndrome (MS).Method: In this prospective cross-sectional study, 189 children ag...

Background: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous rare disorder characterized by variable symptoms including predisposition to fractures. OI has been associated with mutations affecting the synthesis of type I collagen. However, the new technologies have permitted the identification of other responsible genes which are in the collagen metabolic pathway, while others are not.Objective: Characterize the genotype of pati...

Background: Childhood obesity is often associated with insulin resistance (IR), which is a key risk factor for the development of comorbidities. The etiologic relation between insulin resistance and obesity is still not completely understood.Objective: In this study a multiplatform metabolomics approach was applied for the first time to elucidate the metabolic alterations in obese children with or without IR. Metabolomics is the revolutionary strategy of...

Background: Recognizing the risk of developing obesity is essential to implement preventive measures to avoid the increasing prevalence of obesity in adulthood.Objective: To evaluate predictive factors that may be associated with overweight and obesity in early adulthood.Method: A regression analysis of different variables of body composition in a normal population have been done. The sample consisted of 122 boys and 120 girls foll...

Introduction: The epidemiology of childhood type 1 diabetes (DM1) allows to understand the genetics and enviromental factors involve in one of the most prevalent chronic disease in children. The unification of methodological recommendations has allowed to detect new research lines.Method: We present an observational study of population under 13 years old and DM1 in Extremadura (1996–2011). The aim was to examine secular trends in the incidence of DM...

After the evident socio-health transformation when facing intersexualities / entities with different sexual development (DSD), we wonder if clinical-care assistance has improved. Material and method Descriptive multicenter study by means of a retrospective review (2006-2019) of patients with a diagnosis of DSD in pediatric age. Interdisciplinary assessment through satisfaction surveys to families / patients.Results: 67 patients were included. 27% were op...

Background: Pseudohypoparathyroidism 1A, newly classified as inactivating PTH/PTHrP signaling disorder type 2 (iPPSD2), is defined by resistance to parathyroid hormone, short stature and early-onset obesity. Short stature is caused by skeletal dysplasia and additionally, in some cases, also by the coexistence of growth hormone deficiency, as other hormonal resistances might be present (e.g. thyroid-stimulating hormone, growth hormone releasing hormone (GHRH), ...

Introduction: Italy was the first EU country to be affected by COVID-19 outbreak. The sudden change in everyday life was challenging for children and young people (CYP) who rely heavily on peer connections for emotional and social support. Concerns for consequences in CYP with type 1 diabetes (T1D) rose.Objectives: To compare the diabetes-specific health-related quality of life (D-HRQOL) of CYP with T1D and their parents...

Achondroplasia is a rare genetic condition caused by a recurrent pathogenetic variant in the FGFR3 gene resulting in short limb skeletal dysplasia. Due to the wide-ranging anomalies associated with achondroplasia (both peculiar clinical features and complications), a multidisciplinary team is often required for ongoing care, although the nature of specialists involved differs among countries. Despite a European consensus on principles for the management of achondropla...

MOPD is known to be caused by homozygous loss-of-function mutations in a specific gene, PCNT. Both intra- and interfamilial clinical variability (even for the same variant) have been frequently observed, which makes it difficult to infer a genotype–phenotype correlation. Pericentrin (PCTN) is a structural protein expressed in the centrosome that plays a fundamental role in anchoring protein complexes, regulating mitotic cycle and thus cell proliferation. High levels of m...