hrp0095p2-276 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

The challenge of gender identity due to 5α-reductase deficiency- a case report

Herrmann Gloria , Bauer Agnes , Winner Kay , Kapapa Melanie , Stoll Elvira , Serra Alexandre , Wabitsch Martin

The 5α-reductase deficiency type 2 is a rare autosomal recessive 46,XY disorder of sexual development (DSD), presenting with a wide clinical spectrum ranging from a male phenotype with hypospadias to a female phenotype with wolffian structures. Here we report about the clinical, hormonal and molecular characterization of two siblings with a mutation in the SRD5A2 gene, as well as the challenge of gender identity and the importance of psychosocial care. The older sibling ...

hrp0092rfc7.2 | Diabetes and Insulin Session 2 | ESPE2019

β-Cell Function and Glucose Effectiveness in the Development of Impaired Fasting Glucose in Obese European Children and Adolescents

Denzer Christian , Kohlsdorf Katja , von Schnurbein Julia , Wabitsch Martin , Vogt Josef

Objectives: Impaired fasting glucose (IFG) is a risk factor for the development of type 2 diabetes in adults. In obese children and adolescents, IFG and impaired glucose tolerance constitute distinct prediabetic stages, which do not necessarily coexist. Pathophysiological mechanisms leading to IFG in children have not been fully elucidated. Available data from cohorts of obese adolescents living in the US suggest a concurrent worsening of insulin sensitivity a...

hrp0089fc12.3 | Diabetes and Insulin 2 | ESPE2018

Impact of Insulin Sensitivity and β-cell Function on the Development of Impaired Glucose Tolerance (IGT) in Obese European Children and Adolescents

Denzer Christian , Vogt Josef , Kohlsdorf Katja , von Schnurbein Julia , Wabitsch Martin

Objectives: Compared to the US, prevalence rates of T2DM in obese children are significantly lower in European countries. Data from cohorts of obese children living in the US suggest a concurrent worsening of insulin sensitivity and ß-cell function over the spectrum of glucose tolerance. If these results can be applied to European populations is currently unknown.Methods: A combination of our novel method for mathematical modelling ...

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...