ESPE Abstracts

Background: In a Phase 3 trial in participants with obesity due to Bardet-Biedl syndrome (BBS) and Alström syndrome, setmelanotide was associated with significant reduction from baseline in body weight and hunger at Week 52 (primary endpoint), with outcomes driven by responses in individuals with BBS.Methods: In the same trial (NCT03746522), individuals with BBS or Alström syndrome were randomized and received ...

Background: The human growth pattern varies from intrauterine to extrauterine life, with the GH-IGF axis being immature at birth and IGF-I assuming an important role in promoting postnatal growth. The actions of IGF-I are modulated by its interactions with IGFBPs, with this interaction being regulated by pappalysins (PAPP-A, PAPP-A2) and stanniocalcins (STC-1, STC-2), and thus modifying the amount of free IGF-I.Objective:</strong...

Background: Children with metabolic syndrome carry an increased risk for development of type 2 diabetes mellitus (T2DM) and cardiovascular disease (CVD) in adulthood. Patients with rare syndromic obesity, such as Bardet-Biedl syndrome (BBS), experience early-onset, severe obesity, which may convey an increased risk for developing obesity-related comorbidities and metabolic syndrome later in life. In clinical trials, treatment with the melanocortin-4 receptor a...

The melanocortin-4 receptor (MC4R) pathway is critical for the regulation of hunger, energy balance, and weight regulation. Individuals who carry variants in MC4R pathway genes may present with early-onset severe obesity and hyperphagia. Historically, genetic testing in individuals with severe obesity has been limited. The Rare Obesity Advanced Diagnosis™ genetic testing program aims to enhance access to genetic testing for European individuals with suspected rare geneti...

Background: Patients with rare monogenic obesity caused by biallelic variants of genes such as proopiomelanocortin (POMC; including variants in PCSK1) or leptin receptor (LEPR) deficiency, experience hyperphagia (a pathologic, insatiable hunger) and early-onset, severe obesity. This suggests potential increased risk over time of obesity-related comorbidities, including metabolic syndrome, a cluster of conditions associated with increased risk of cardiovascular...

Introduction: Fanconi anemia (FA) is a genomic instability syndrome associated with congenital abnormalities. Structural anomalies of the central nervous system (CNS), particularly a small pituitary gland, have been published in a few case series. This has been thought to be the cause of the short stature (SS) observed in FA.Methods: A cross-sectional exploratory study was carried out in pediatric patients at the FA Span...

Background: Type 2 diabetes (T2D) is an emerging disease in the pediatric population. The mechanisms responsible for the development of nonalcoholic fatty liver disease (NAFLD) and progression to nonalcoholic steatohepatitis (NASH) in these patients are incompletely understood. Low serum insulin-like growth factor-1 (IGF-1) levels are associated with increased histologic severity of NAFLD. Growing evidence suggests that growth hormone (GH) and IGF-1 may have r...

Objectives: The etiopathogenetic of childhood obesity is related to genetic and environmental factors: not only caloric intake or physical activity have an important influence, but also circadian rhythms, including healthy sleep.The objectives of this study were: a) to analyze the different patterns and duration of sleep, eating habits, meal schedules, time dedicated to exercise and screens of obesity children; b) to evaluate its possibl...

Background: Type 2 diabetes (T2D) is an emerging disease in the pediatric population. The association between T2D and non-alcoholic fatty liver disease (NAFLD) has been described; this increases the risk of coronary heart disease (CHD). Recent evidence suggests that sizes and composition of HDL may be more important that HDL-C levels in predicting CHD. There is not data regarding the HDL subclasses distribution and composition in T2D youths with hepatic steatosis (HE).<p c...

Background: Neonatal hypocalcemia is defined when the total calcium levels are under 8 mg/dl (Ionic Ca < 1.1 mmol/l) in the full-term newborn, and under 7 mg/dl (Ionic Ca < 1 mmol/l) in the preterm. The fetus entirely depends on the maternal contributions of 25-OH-vitamin D, whose levels are directly correlated with diet and solar exposure. The largest transfer in calcium and vitamin D occurs in the third trimester of gestation, so prematurity is an important risk fact...