ESPE Abstracts

Background/aim: The PTEN hamartoma tumor syndrome (PHTS) is an overgrowth syndrome caused mainly by germline mutations in the tumor suppressor PTEN. Patients are predisposed for the development of malignant and benign tumors. Children and adolescents with PHTS frequently develop single or multiple lipomas. PTEN antagonizes the phosphatidylinositide3-kinase/AKT/mechanistic target of rapamycin (PI3K/AKT/mTOR) pathway, which promotes proliferation and differentiation in ...

Background: Patients with PTEN (phosphatase and tensin homolog) hamartoma tumor syndrome and germ line mutations in PTEN frequently develop lipomatosis, for which there is no standard treatment. Rapamycin was shown to reduce the growth of lipoma cells with heterozygous PTEN deficiency in vitro, but concomitantly induced an up regulation of AKT phosphorylation.Objective and hypotheses: Since it was shown that resveratrol stabilizes PTEN,...

Background: A rapid weight gain during infancy increases adult lean body mass, whereas weight gain during adiposity rebound at age 4-7 years results in increased adult fat mass and an increased risk of the metabolic syndrome and T2D. To understand the impact of age of obesity onset on growth, we classified non-syndromic childhood overweight into an early onset (EO, age 0-3) and a late onset (LO, age 3-7) group and characterized the growth patterns of the two.<...

Context: Growth analyses have traditionally been done by either non-structural descriptive statistics or by fitting models. While we usually describe height and weight separately, we assume reciprocity of weight and height on each other. We utilize ML to predict ages 7–18 y height based on height and weight data up to age 6y.Methods: After pre-processing the height and weight, primary and secondary features (height SDS, BMI, growth velocity) of 1596...

Background: FGF21 is a metabolic and growth regulator.Aim: To investigate the role of FGF21 during growth in infancy.Methods: Cohort of 40 term (T) and 40 preterm (PT) newborns whose length and weight were evaluated prospectively at birth, 6 months, and 12 months. Blood samples for FGF21, IGF1, leptin, insulin and glucose were collected at 6 and 12 months. In addition, FGF21, I GF-I, leptin, and insulin were measured in cord blood ...

Introduction: Until recently, bariatric surgery (BS) has been the only option for clinically meaningful weight reduction for adolescents and youth with extreme obesity. Low participation rate in follow-up examinations and low supplement intake after BS in adolescents has been described in literature (PMID: 24048144, 25078533). We developed a structured pre- and post-bariatric surgery program in order to improve follow-up rate and supplement intake in adolescen...

Aim: Childhood obesity has become extremely important issue worldwide. The aim of this study was to determine associations between data from bioimpedance analysis with the antrophometric measurements and biochemical results obtained from children and adolescents with severe obesity.Study population and Methods: Study group consisted of 128 children recruited in four regional reference centers including 70 girls (54.7%) a...

It is estimated that 1-5% of children and adolescents in Europe suffer from severe obesity (corresponding to an adult BMI > 40 kg/m2). However, in risk stratification, the occurrence of metabolic complications is more important than BMI itself. The study aimed to assess the occurrence of cardiovascular risk factors in a cohort of children and adolescents with severe obesity.Patients and Methods: The analysis included 140 patients (75 ...

Background: We present a patient with co-existence of two rare conditions 3β-Hydroxysteroid dehydrogenase type 2 deficiency (HSD3B2) the rarest form of Congenital Adrenal Hyperplasia (CAH) and Bartter’s Syndrome (hypokalaemic alkalosis secondary to hyperaldosteronism).Case Report: A female infant (46XX) born at 34/40 weeks weighing 2.67 kg to non-consanguineous parents presented on day four of life with significant weight loss. Subsequent inves...

Background: The phosphatase and tensin homolog (PTEN)/phosphatidylinositol-3-kinase (PI3K)/AKT signaling pathway is central for cell cycle control, differentiation, migration, and metabolism. Unrestricted growth of adipose tissue in particular is frequently seen in humans with germline PTEN and mosaic activating PIK3CA mutations, respectively.Objective and hypotheses: We assume that adipocytes from affected tissue show hyperproliferation and modified dif...