ESPE Abstracts

Background and Aim: IRS1 (Insulin Receptor Substrate 1) is involved in the insulin signalling pathway and abnormalities thereof have been related to metabolic disorders and obesity. In obese subjects, insulin resistance has been associated with changes in IRS1 expression in peripheral in blood. Sex-based differences in cardiovascular disease are well established. Previous results from our group disclosed the association between IRS1 placental methylation with ...

Introduction and aims: MEST (Mesoderm-specific transcript), a candidate gene for Silver-Russell syndrome, is a paternally expressed imprinted gene that positively regulates foetal growth. MEST has also been shown to promote adipose tissue expansion in conditions of positive energy balance. In this context, our objective was to study the possible relationship between placental MEST gene expression and postnatal growth and obesity para...

Introduction: Klotho is an anti-aging protein that reduces adiposity and increases caloric expenditure, among others. Although associations between secreted α-Klotho levels and obesity have been described, its relationship with central obesity and visceral fat accumulation during childhood is poorly understood. Our objective was to study the longitudinal associations between serum α-Klotho concentrations and obesity parameters in apparently healthy...

Introduction: The CCDC3 gene encodes for a protein expressed in endothelial cells and adipose tissue. Insulin increases its expression and, in turn, CCDC3 positively regulates adipogenesis and lipid accumulation. CCDC3 expression is increased in visceral adipose tissue from subjects with obesity. Gestational obesity can modify the metabolic programming in the offspring through epigenetic mechanisms. However, it is unknown whether the...

Introduction: An increase in liver enzymes predicts cardiac hypertrophy secondary to increased left ventricular mass in patients with cardiovascular disease. The mechanisms involved include decreased adiponectin concentration and increased epicardial fat in these subjects. We hypothesized that associations between these parameters would also be readily apparent in otherwise healthy children.Objectives: Our objective was ...

Background: Infants with Prader-Willi syndrome (PWS) exhibit stunted growth. However, little is known about the role of genes expressed from the imprinted PWS domain in healthy infants. This study aimed to analyze the relative gene expression of the SNURF-SNRPN/UBE3A cluster in the imprinted PWS domain in umbilical cord tissue, and its potential association with prenatal and postnatal growth in apparently healthy infants.Methods:...

Background: MKNR3 is a paternally expressed gene whose loss-of-function mutations cause Central precocious puberty (CPP). The precise molecular disruption produced by MKRN3 mutations remains unclear albeit protein structure suggests MKRN3 could play a role in proteasome ubiquitination. Circulating MKRN3 levels has been negatively associated to LH peak, estradiol and kisspeptin in idiopathic CPP and healthy controls. However, no literature data is available for...

A 5-year-old Moroccan patient comes to our attention due to impaired gait with pain in the lower limbs, easy fatigue and poor gain in weight and stature. In the previous months he had some episodes of abdominal pain. During our first physical examination he was pale, with diffuse muscular hypotrophy, uncertain gait with an enlarged base, dubious hypertrophy of the calves and Gowers' sign. No varus / valgus of the lower limbs. Symmetrical and normo-evocable osteotendinous ...

A 5-year old boy was referred to our clinic for short stature reported since first years of life. At birth weight and length were normal, psychomotor development was regular, target height was 165.9 cm. At 7 months of life he was subjected to correction of cleft lip-palate. Since 3 years of life he suffered from headache, for which a fundoscopy was performed and revealed a Morning Glory Disc Anomaly (MGDA) of the right eye. At our first visit height was 98.2 cm (-2.5DS), body ...

Childhood obesity has become a major health issue in the last decades. Moreover, identifying a simple, feasible, and valid screening tool to select subjects at higher risk for obesity-related comorbidities has become a challenge. Current guidelines reccommend to use BMI percentile for overweight and obesity diagnosis. However, waist-to-height ratio (WHR) has been associated with the risk of metabolic derangement in children and adolescents with overweight and obesity. In addit...