hrp0089p1-p104 | Fat, Metabolism and Obesity P1 | ESPE2018

Chromosomal Deletions at Chromosome 16p11.2 Associated with Severe Early-Onset Obesity- 3 Additional Patients

Herrmann Gloria , Ehehalt Stefan , Borck Guntram , Wabitsch Martin , Schnurbein Julia von

Deletions at 16p11.2 have been reported to be associated with obesity, intellectual disability and various malformations. There are variations in phenotypes associated with deletions of different sizes in this region. Some deletions encompass the SH2B1 gene encoding an adaptor protein involved in leptin and insulin signalling which is believed to be causal for the early-onset obesity of these patients who in addition show a developmental delay (see patient 1). Deletio...

hrp0089p1-p124 | Fat, Metabolism and Obesity P1 | ESPE2018

Metabolic Phenotype of Human Adipocytes Overexpressing UCP1

Tews Daniel , Pula Taner , Funcke Jan-Bernd , Wabitsch Martin , Fischer-Posovszky Pamela

Background: Functional studies on uncoupling protein 1 (UCP1) are important to identify potential pharmacological targets which interfere with energy metabolism. However, current cell models of human origin are scarce due to limited tissue availability. In this study, we generated human preadipocytes and adipocytes with an overexpression of UCP1 and studied the metabolic function of these cells.Methods: Human Simpson-Golabi-Behmel syndrome (SGBS) cells w...

hrp0089p2-p368 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

A Case of Gonadal Dysgenesis Due to a Novel Homozygous Mutation in NR5A2 Gene

Denzer Friederike , Denzer Christian , Hornig Nadine , Holterhus Paul-Martin , Hiort Olaf , Wabitsch Martin

Background: Steroidogenic factor (SF1, NR5A2) regulates multiple genes known to be involved in gonadal development, adrenal development, steroidogenesis, and gonadotroph development. Heterozygous mutations in the NR5A1 gene have been described in association with mild to severe gonadal dysgenesis with or without adrenal failure. Homozygous mutations are rare and have also been described in association with gonadal dysgenesis with or without adrenal failure.<p class="abstex...

hrp0082fc12.6 | Obesity | ESPE2014

Resveratrol Inhibits Inflammation-Induced Production of Cytokines in Human Adipocytes

Zagotta Ivana , Killian Alexandra , Haas Jennifer , Kietzmann Thomas , Debatin Klaus-Michael , Wabitsch Martin , Fischer-Posovszky Pamela

Background: Upon excessive expansion, adipose tissue is infiltrated by macrophages and shows increased production of inflammatory cytokines. This chronic low grade inflammation of adipose tissue is involved in the pathogenesis of insulin resistance. A supplementation with resveratrol can reverse the metabolic disturbances of human obesity, in part by mimicking the effects of caloric restriction.Objective and Hypotheses: We hypothesized that the beneficia...

hrp0084p2-354 | Fat | ESPE2015

Overweight and Obesity in Childhood Cancer Survivors

Denzer Christian , Breuninger Louise , Steinbach Daniel , Cario Holger , Debatin Klaus-Michael , Wabitsch Martin

Background: Obesity is a potential late-effect of therapies for childhood cancer. Reported prevalence rates of obesity in childhood cancer survivors are heterogenous and currently unavailable for children treated according to protocols of the German Society for Paediatric Oncology. Furthermore, risk factors for the development of obesity following childhood cancer remain largely unknown.Methods: From a cohort of n=149 patients followed in a late...

hrp0084p3-840 | Fat | ESPE2015

Are Age and Initial BMI-SDS in Obese Children and Adolescents Associated with the BMI-SDS Courses During and after the Attendance of an Inpatient Weight-Loss Program (LOGIC-Trial)?

Brandt Stephanie , Wabitsch Martin , Heitkamp Melanie , Geilhof Barbara , Langhof Helmut , Halle Martin , Siegrist Monika

Background: It has been discussed in literature, that being severely obese and adolescent are predictive for failure in a behavior based weight-loss program.Objective: To investigate the association between age and initial BMI-SDS with BMI-SDS courses during and after the attendance of an inpatient weight-loss program.Design: The LOGIC-trial involves overweight and obese children and adolescents (6–19 years), who participate i...

hrp0094p2-195 | Fat, metabolism and obesity | ESPE2021

Assessment of Hyperphagia in Patients with Monogenic Obesity

Zorn Stefanie , von Schnurbein Julia , Schirmer Melanie , Kohlsdorf Katja , Brandt Stephanie , Wabitsch Martin ,

Introduction: Besides an excessive, early-childhood weight gain, hyperphagia is the key symptom in patients with monogenic obesity. However, the assessment of hyperphagia is still challenging. Here, we applied the hyperphagia questionnaire developed for patients with Prader-Willi-Syndrome (PWS) to assess the severity of hyperphagia in patients with monogenic obesity.Methods: Pediatric patients with biallelic pathogenic l...

hrp0094p2-222 | Fat, metabolism and obesity | ESPE2021

Design of a Phase 2, Double-Blind, Placebo-Controlled Trial of Setmelanotide in Patients With Genetic Variants in the Melanocortin-4 Receptor Pathway

Farooqi Sadaf , Wabitsch Martin , Chung Wendy , Ohayon Olga , Scimia Cecilia , Yuan Guojun , Shah Bhavik , Stewart Murray ,

Background: Rare genetic causes of obesity include variants in genes within the melanocortin-4 receptor (MC4R) pathway, a principal regulator of energy balance. Weight and hunger reductions following treatment with the MC4R agonist setmelanotide have been demonstrated in patients with obesity due to variants in multiple genes, including POMC, LEPR, SRC1, and SH2B1. We describe a trial design of setmelanotide in patients with addition...

hrp0095fc4.2 | Fat, Metabolism and Obesity | ESPE2022

Positive effects of a structured pre- and post-bariatric surgery program on follow-up rate and supplement intake in adolescents and youths- Results from the German YES cohort

Brandt Stephanie , Schirmer Melanie , Kleger Pauline , von Schnurbein Julia , Holle Rolf , Holl Reinhard W. , Hebebrand Johannes , Wiegand Susanna , Wabitsch Martin

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...

hrp0095fc4.4 | Fat, Metabolism and Obesity | ESPE2022

Inhibition of Neuritin 1 induces browning in human white adipocytes and protects from obesity in vivo

Tews Daniel , Roos Julian , Winter Gordon , Beer Ambros , Rasche Volker , Nedivi Elly , Debatin Klaus-Michael , Wabitsch Martin , Fischer-Posovszky Pamela

Recently, we identified Neuritin 1 (NRN1) as preferentially expressed in human white compared to brown adipocyte progenitor cells. In mice, Nrn1 deficiency leads to a reduction in body weight, indicating that it might regulate body weight. In this study, we aim to address the function of NRN1 regarding adipocyte metabolism in vitro and in vivo. We used human SGBS preadipocytes as an in vitro model system. NRN1-deficient cells were generated using len...