ESPE Abstracts

Introduction: Diploid/triploid mosaicism is an uncommon clinical syndrome presenting with developmental retardation and a distinctive phenotype: prenatal and postnatal asymmetric growth deficiency, distinctive facial dysmorphism, hands and feet malformations with a wide sandal gap, pigmentary dysplasia, hypotonia and hypotrophy of the musculature, and truncal obesity. However, metabolic syndrome was not reported in these patients. Diploid/triploid mosaicism ma...

Background: Genetic factors play an important role in determining individual susceptibility to weight gain and obesity. In the last few years, several genetic variants have been identified as causative of monogenic/syndromic forms of obesity, mainly involved in the hypothalamic leptin-melanocortin pathways (LMP) that regulates food intake and energy homeostasis.Methods: Pediatric patients (<18 years) with severe obesi...

Background: Monogenic obesity is a rare form of obesity caused by pathogenic variants in genes implicated in the leptin–melanocortin receptor (MC4R) signaling pathway. The MC4R pathway plays a crucial role in the regulation of satiety, energy balance, and body weight. Abnormalities in the leptin–melanocortin pathway are characterized by early weight gain, hyperphagia, and severe obesity.Objective: To investig...

Background: The prevalence of childhood and adulthood obesity as a chronic condition is rising worldwide with comorbidities and impairment of psychosocial development starting already early in life. The transition from adolescence to adulthood is a vulnerable period for young individuals with chronic conditions, yet the transition of children with obesity remains poorly studied. We aimed to characterize the transition of children with overweight/obesity from a...

Objective: This study aims to assess the potential predictive value of impulse oscillometry (IOS) and hepatic fat content as an alternative diagnostic tools to polysomnography (PSG) for obstructive sleep apnea syndrome (OSAS) in obese children and adolescents.Method: The study included obese children with a body mass index (BMI) above the 95th percentile. OSAS was assessed via PSG in obese children. Hypopnea was defined ...

Background: Treatment of adolescents with obesity with duodenal-jejunal bypass liner (DJBL) is effective in terms of lowering body mass index (BMI) and improving the metabolic complications of obesity.Objective and hypotheses: To quantify the temporal and quantitative changes in the expression of cytokines associated with appetite and insulin resistance and C-reactive protein (CRP) after insertion of DJBL in correlation ...

Background: Whilst recent systematic reviews have suggested potential benefits to exercise interventions on metabolic outcomes for children and young people (CYP) living with obesity, there is a lack of studies examining the qualitative experiences of CYP as to exercise provision within obesity services. It is reported that weight stigma has a negative impact on self-esteem which may be a barrier to participating in physical activity. We describe the experienc...

Introduction: Monogenic obesity is characterised by early-onset, severe obesity ((body mass index) BMI >99.6th centile) and hyperphagia. Access to genetic testing is limited, thus prevalence may be underestimated. Genes in the leptin-melanocortin pathway, related to the hypothalamic control of food intake, are frequently involved. We report results obtained via the Rare Obesity Advanced DiagnosisTM genetic testing program.<p class=...

Background: GNAS encodes the Gαs (stimulatory G-protein alpha subunit) protein, which mediates G protein–coupled receptor (GPCR) signaling. Mutations in GNAS are known to cause pseudohypoparathyroidism (PHP). Children with this condition are overweight, have learning difficulties, are often short and have skeletal changes and hormone resistance.Case report: We-herein-report a 6-month-old mal...