ESPE Abstracts

Background: Neonatal over-nutrition (NON) can increase the propensity to become overweight and develop associated metabolic disturbances in later life. Moreover, some of these long-term effects are sexually dimorphic.Objective and hypotheses: We aimed to determine how NON affects body weight (BW), body composition and triglyceride (TG) and non-esterified fatty acids (NEFA) levels. We hypothesized that the effects would be both age and sex dependant.<...

Background: Obesity is one of the major risk factor for metabolic and cardiovascular disorders, and its global prevalence has increased exponentially in the last decades. Excessive weight gained during early childhood increases long-term risk; however, reversing this condition during early-life reduces risk, improving children’s quality of life.Objective and hypotheses: We hypothesized that a lifestyle intervention in obese prepubertal children woul...

Introduction: Obesity is known to associate with chronic systemic inflammation. However, hypothalamic inflammation also occurs in response to high fat diet (HFD)-induced obesity and is proposed to participate in central insulin/leptin resistance and the perpetuation of weight gain and systemic affectation. The weight gain and central responses to HFD differ between males and females. As hypothalamic glial cells are implicated in the central inflammatory response we hypothesize...

Background: Beckwith–Wiedemann Syndrome (BWS) is a clinical and genetically heterogeneous entity encompassing overgrowth and variable manifestations. Early diagnosis of BWS is crucial due to the increased risk for developing embryonal malignancies (mainly below 5 years of age).Objective: We aimed to screen the presence of underdiagnosed BWS among ‘non-syndromic’ obese children.Method: We studied 159 children (95 male...

Introduction: Maternal deprivation (MD) during neonatal life has diverse long-term effects, including modification of metabolism. Some of these effects are sexually dimorphic. We have previously reported that MD in rats blocks the physiological neonatal leptin surge, which could underlie the long-term metabolic changes.Hypothesis: We hypothesized that replacement of leptin during MD would normalize long-term endocrine changes.Metho...

Background: The central melanocortin system is highly involved in the control of energy metabolism, receiving and integrating numerous metabolic signals, such as leptin, and biallelic mutations in several genes of the pathway have been reported in severe obesity. However, whether and how heterozygous rare sequence variants (hetRSVs) in genes of this satiety pathway contribute to the development of obesity is poorly explored.Objec...

Introduction: Fanconi anemia (FA) is a rare genetic disease that presents with aplastic anemia. Around 60% have short stature (SST), with a mean height of -2.2 SD. However, studies assessing the etiology of SST not having reached relevant conclusions.Aim: Our aim was to evaluate the clinical features and endocrine status in relationship to SST in patients with FA.Methods and Patients: A cross-secti...

Introduction: Transgender people and the gender transition process requires a series of processes with psychosocial, legal and physical implications. In our community, with the establishment of the care plan for trans youth, reference units were created in 2015. We had an interest to analyze the different epidemiological variables and the type of care demand of this population cared for in our unit.Methodology: An observ...

Background: French health authorities have developed a national program to organize outpatient care networks for the prevention and management of obesity in children and adolescents (Réseau de Prise en Charge de l’Obésité Pédiatrique (REPOP)). To date, REPOP Ile-de-France has more than 250 primary care physicians with dietitians, nurses, educators, and psychologists trained in the management of childhood obesity as part of a standard care pathway, work...

Introduction: Androgen Insensitivity Syndrome (AIS) is the most common cause of Differences of Sexual Development (DSD) in 46, XY individuals. It is an X-linked genetic disease caused by allelic variants in the Androgen Receptor Gene (Xq11-12). Methods: Patients with clinical suspicion of AIS performed hormonal serum measurements (LH, FSH, estradiol, testosterone) and molecular sequencing of the AR gene, including exons and the 5’UTR region. Psychosexual variab...