ESPE Abstracts

Background: Silver Russell Syndrome (SRS) is characterized by pre- and postnatal growth failure, relative macrocephaly at birth, prominent forehead, feeding difficulties and body asymmetry. The diagnosis is clinical, the genetic mechanisms involved are different, in 50% of cases loss of methylation (LOM) at the paternal H19/IGF2:IG-DMR (chr11p15.5), in 10% of cases maternal uniparental disomy of chromosome 7 (UPD(7)mat), cases of maternal uniparental ...

Background: Gonadal function is altered up to 25% in patients who suffered cancer in childhood. Cryopreservation of ovarian tissue (COT) is an option for preserving fertility.Aims and objective: To establish the prevalence of primary hypogonadism (PH) in children with cancer after hematopoietic cell transplantation (HCT). To analyse the variables that predict progression to PH.Methods: Retrospective cohort study. Patients aged 0 to...

Background: Congenital hypopituitarism (CH) genetics is highly heterogeneous. The massive use of NGS identified at least 21 desease causing genes. Not fully understood inheritance mechanism, incomplete penetrance and variable expressivity explain the complexity of phenotype-genotype correlations. To further complicate the scenario, the co-occurence of more than one desease-causing genes variants can geopardize the phenotype. Herein, we report the heterogeneous...

Introduction: Thyroid hormones regulate body composition and metabolism, and are among the key drivers of body growth and maturation. In children, associations of cardio-metabolic measures with the circulating prohormone thyroxine (T4) have been extensively studied, but not with active triiodothyronine (T3). In apparently healthy children, we studied whether circulating free T3 (fT3) [and its ratio with free T4 (fT3/fT4)] associates with cardio-metabolic measu...

Background and aims: Studies in adults and experimental animals suggest an inverse and bidirectional relationship between cognitive abilities and obesity. Clinical studies on cognition and obesity in children are scarce and methodologically heterogeneous. Indeed, various factors related to obesity including diet, physical activity, socioeconomic status and maternal obesity can affect neuropsychological development. We aimed to study the cognitive function in s...

Introduction and objectives: Imprinted genes have been broadly related to prenatal growth regulation. PEG10 is a maternally imprinted gene involved in cellular proliferation that is mainly expressed in the placenta and in some adult tissues. In mice, mutations in this gene have been related to growth restriction of both the embryo and the placenta. Nevertheless, its role in postnatal growth has not yet been established. We aimed to study prospectively the rela...

Introduction: Inactivity in children is associated with cardiometabolic risk, while physical activity improves cardiometabolic health. We aimed to determine the association between epicardial fat (Efat), interventricular septal and left ventricular posterior wall thicknesses (IVSthickness and LVPWthickness) with physical activity/inactivity, non-sedentary/sedentary behavior, body composition, and cardio-metabolic parameters in children classified as being: ina...

Background and Objectives: Offspring born to obese mothers are at an increased risk of chronic disease including type 2 diabetes (T2D), obesity, hypertension, cardiovascular disease (CVD), non-alcoholic fatty liver disease (NAFLD) and chronic kidney disease (CKD). This metabolic programming is produced, in part, by epigenetic changes such us DNA methylation. We postulated that obesity exposure impacts the offspring's methylome and used an epigenomic approa...

Introduction: Imprinted genes are critical for placental function and normal fetal growth and development. Very little is known about the impact of maternal obesity on imprinted genes and their role in postnatal growth and metabolism.Objectives: 1) To identify umbilical cord DNA methylation sites (CpG) associated with gestational weight gain (GWG); 2) to identify which of these CpGs lie within imprinting control regions ...

Introduction: Children with Prader-Willi syndrome present with short stature and obesity. However, very little is known about the role of this imprinted control region in the general population. This study aims to analyze the methylation status of the PWS imprinting control region (ICR) in placenta and its association with postnatal growth and obesity parameters in healthy children.Methodology: The methylation percentages of the PWS-ICR ...