hrp0089p1-p033 | Bone, Growth Plate & Mineral Metabolism P1 | ESPE2018

Comparison of Manual and Automated Bone Age Assessment in 1285 Children and Adolescents Aged 5 to 16 Years

Maratova Klara , Zemkova Daniela , Lebl Jan , Soucek Ondrej , Pruhova Stepanka , Kolouskova Stanislava , Snajderova Marta , Krasnicanova Hana , Sumnik Zdenek

Background: Skeletal maturation is the most reliable indicator of biological age in children and adolescents. The evaluation of hand and wrist X-Ray according to Tanner-Whitehouse (TW3) or Greulich-Pyle (GP) are the most commonly used methods for biological age assessment. Automated bone age assessment has recently become increasingly popular, however a large independent study comparing automated and manual evaluation of bone age is still missing. The aim of this study was to ...

hrp0089p3-p242 | Growth & Syndromes P3 | ESPE2018

A Case of Hutchinson-Gilford Progeria Syndrome (HGPS) due to a Pathogenic LMNA Variant c.433G>A (p.Glu145Lys): Growth Hormone Administration Failed to Improve Growth and Long-term Outcome

Toni Ledjona , Dušatkoa Petra , Novotna Dana , Zemkova Dana , PrUhova Štěpanka , Lebl Jan

Hutchinson-Gilford Progeria Syndrome (HGPS) is an extremely rare condition (estimated incidence 1:4–8 million), caused by mutations in LMNA gene, which leads to premature aging. Median life expectancy is shortened to 13 years due to vascular complications such as stroke or myocardial infarction. We present below the history of a child born with a pathogenic LMNA variant c.433G>A (p.Glu145Lys). A male patient was referred due to failure to thrive and low growth velocit...

hrp0086p1-p110 | Bone & Mineral Metabolism P1 | ESPE2016

Increase in Sclerostin After Rapid Weight Loss in Children

Birkebaek Niels H , Frystyk Jan , Lange Aksel , Holland-Fischer Peter , Kristensen Kurt , Rittig Soren , Vilstrup Henrik , Henning Gronbaek

Background: Sclerostin is secreted by the osteocyte and inhibits bone formation by osteoblasts and is thus a negative regulator of bone formation. In adults, sclerostin levels increase after weight loss, which may be prevented by exercise training. The effect of weight loss on sclerostin in children is unknown.Objective and hypotheses: To compare sclerostin levels in children before and after a 10 weeks stay at a weight loss camp (WLC).<p class="abst...

hrp0086p1-p340 | Gonads &amp; DSD P1 | ESPE2016

Intrauterine Growth Restriction Affects Postnatal Testis Maturation in Rats

Pampanini Valentina , Germani Daniela , Puglianiello Antonella , Stukenborg Jan-Bernd , Reda Ahmed , Savchuk Iuliia , Kjartansdottir Ros , Cianfarani Stefano , Soder Olle

Background: The influence of intrauterine life on long term health is supported by a wealth of epidemiological and experimental studies. A low oxygen and/or nutrient supply to the fetus, resulting in intrauterine growth restriction (IUGR), may affect gonadal development of the offspring, with a potential impact on fertility. Data derived from animal models of placental insufficiency are very limited.Objective and hypotheses: To investigate the effects of...

hrp0086p1-p452 | Fat Metabolism and Obesity P1 | ESPE2016

High Predictability of Impaired Glucose Tolerance by Combining Diagnostic Parameters in Obese Children

Jan de Groot Cornelis , van der Grond Jeroen , Delgado Yosine , Rings Edmond , Hannema Sabine , van den Akker Erica

Background: Current guidelines suggest to test obese subjects with impaired fasting glucose (IFG) by oral glucose tolerance test (OGTT) for the presence of type 2 diabetes. This strategy, however, misses most cases of impaired glucose tolerance (IGT).Objective and hypotheses: To investigate whether combining risk factors improves predictability of IGT in OGTT.Method: In this observational study of 145 overweight children, aged 2.5&...

hrp0086p1-p470 | Fat Metabolism and Obesity P1 | ESPE2016

Brain Structure, Executive Function and Appetitive Traits in Adolescent Obesity

Jan de Groot Cornelis , van den Akker Erica , Rings Edmond , Delemarre-van de Waal Henriette , van der Grond Jeroen

Background: Children with obesity show differences in brain structure, executive function and appetitive traits when compared to lean peers. Results of imaging studies, however, have been contradictory.Objective and hypotheses: To investigate whether childhood obesity is associated with differences in brain structure and whether differences associate with executive function and appetitive traits.Method: A cross-sectional case-contr...

hrp0082fc1.5 | Adrenal | ESPE2014

Antenatal Glucocorticoid Treatment and Polymorphisms in Glucocorticoid and Mineralocorticoid Receptor Genes are Associated with Long-Term Neurodevelopmental Outcomes in Preterm Survivors

van der Voorn Bibian , van der Pal Sylvia , Wit Jan , Meulenbelt Ingrid , Slagboom Eline , Rotteveel Joost , Finken Martijn

Background: Preterm survivors are found to exhibit deficits in several neurodevelopmental domains. It is unknown whether this could be explained by antenatal glucocorticoid treatment.Objective and Hypotheses: We studied whether antenatal glucocorticoid treatment is associated with behaviour and IQ in young adults born preterm. In addition, we studied whether these associations could be modified by the R23K and N363S polymorphisms in the glucocorticoid re...

hrp0082fc8.3 | Fat Metabolism | ESPE2014

Identification of Death Ligand TNF-Related Apoptosis-Inducing Ligand as a Potent Mitogen in Human Preadipocytes

Funcke Jan-Bernd , Zoller Verena , El Hay Muad Abd , Debatin Klaus-Michael , Wabitsch Martin , Fischer-Posovszky Pamela

Background: Adipose tissue is an important endocrine organ. Its secretion profile is robustly changed in the context of obesity fueling the development of comorbidities such as insulin resistance, diabetes mellitus type 2, and atherosclerosis. We have recently shown that the adipose tissue expression of the death ligand TNF-Related Apoptosis-Inducing Ligand TRAIL and its receptors is upregulated in obesity.Objective and Hypotheses: In this project, we in...

hrp0082p1-d1-103 | Fat Metabolism &amp; Obesity | ESPE2014

TNF-Related Apoptosis-Inducing Ligand Induces a Pro-Inflammatory Secretion Profile in Human Adipocytes

Zoller Verena , El Hay Muad Abd , Funcke Jan-Bernd , Debatin Klaus-Michael , Wabitsch Martin , Fischer-Posovszky Pamela

Background: Obesity is tightly associated with adipose tissue inflammation. Tumor necrosis factor-alpha (TNFα) has been identified as a key player in this inflammatory process and has been linked to the development of obesity-associated insulin resistance. Our group studies the involvement of TNF superfamily members in obesity-induced alterations in adipose tissue.Objective and hypotheses: Here, we aimed to identify the effects of the TNF superfamil...

hrp0082p1-d1-183 | Perinatal and Neonatal Endocrinology | ESPE2014

Molecular Genetic Analysis of Czech Patients with Congenital Hyperinsulinism: Surprisingly High Incidence of HNF1A Mutations

Rozenkova Klara , Dusatkova Lenka , Dusatkova Petra , Kytnarova Jitka , Obermannova Barbora , Rypackova Blanka , Sumnik Zdenek , Lebl Jan , Cinek Ondrej , Pruhova Stepanka

Background: Congenital hyperinsulinism of infancy represents a group of heterogeneous disorders characterized by over-secretion of insulin from pancreatic β cells causing severe hypoglycemia. Genetically, congenital hyperinsulinism is caused by defects in key genes regulating insulin secretion (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, UCP2, HNF4A, and non-constantly HNF1A). The aim of our pr...