hrp0084p2-329 | Fat | ESPE2015

Meteorin-Like (METRNL) Expression in Human Adipose Tissue is Associated with Adipocyte Hypertrophy and Inflammation and is Down-Regulated During Human Adipogenesis

Loffler Dennis , Rockstroh Denise , Schwartze Julian , Landgraf Kathrin , Korner Antje

Background: The new adipokine/myokine meteorin-like (Metrnl) has been proposed to be of interest for obesity and metabolic disease through its potential role for brown/beige fat thermogenesis and macrophage activation in mice. METRNL was reported to be expressed in white adipose tissue (AT) and upregulated during adipogenesis and by exercise and.Aims: In this study we analysed the expression of METRNL during human adipogenesis and its regulation...

hrp0089p2-p213 | GH & IGFs P2 | ESPE2018

Different Genetic Causes of Short Stature in a Family

Tulun Alev , Pfaffle Roland , Rockstroh Denise , Jamra Rami Abou , Schmidt Julia , Gillessen-Kaesbach Gabriele , Hoppmann Julia , Hiort Olaf

Background: The most common endocrine cause of growth disorders in childhood is growth hormone deficiency (GHD). The rare monogenic forms of GHD are inherited as autosomal dominant or recessive traits and manifest as isolated deficiency or in combination with other hormone deficiencies. Here, we report on a three-year-old girl with a severe growth retardation (height 77 cm, – 5.6 S.D.S.). She is the only child of non-consanguineous parents from northern Ira...

hrp0089p1-p144 | GH & IGFs P1 | ESPE2018

A New p.(Ile66Serfs*93) IGF2 Variant Is Associated with SRS-like Phenotype

Rockstroh Denise , Pfaffle Heike , Le Duc Diana , Roszler Franziska , Schlensog-Schuster Franziska , Heiker John T , Kratzsch Jurgen , Kiess Wieland , Lemke Johannes , Abou Jamra Rami , Pfaffle Roland

The Silver-Russel syndrome (SRS) is characterized by an intrauterine growth retardation accompanied by postnatal growth deficiency. Affected individuals typically have proportionately short statue, finger deformities as well as typical facial features. About 10% of individuals with SRS have maternal uniparental disomy for chromosome 7 (UPD7) and 35%–50% showed hypomethylation of the parental imprinting center region 1 (ICR1) of chromosome 11p15.5. In the recent past also ...

hrp0082p1-d1-107 | Fat Metabolism & Obesity | ESPE2014

Evidence of Early Alterations in Adipose Tissue Biology and Function in Obese Children

Landgraf Katrhin , Rockstroh Denise , Wagner Isabel , Tauscher Roy , Schwartze Julian , Buhligen Ulf , Till Holger , Wojan Magdalena , Kratzsch Jurgen , Kiess Wieland , Bluher Matthias , Korner Antje

Background: Accumulation of fat mass in the development of obesity may result from hypertrophy and/or hyperplasia and is frequently associated with adipose tissue (AT) dysfunction in adults. However, the onset and mechanisms of AT dysfunction are not entirely understood.Objective and hypotheses: We assessed composition, function, lipolysis, and inflammation in 171 AT samples from lean and obese children and adolescents (aged 0 – 18 years) to evaluat...

hrp0089p1-p183 | Growth & Syndromes P1 | ESPE2018

Carriers of IGF1-receptor Mutations As A Subgroup of SGA Patients: A Comprehensive Retrospective Comparison of Response to rhGH Treatment and Health Profile

Gopel Eric , Klammt Jurgen , Rockstroh Denise , Pfaffle Heike , Schlicke Marina , Bechtold-Dalla Pozza Susanne , Gannage-Yared Marie-Helene , Gucev Zoran , Mohn Angelika , Harmel Eva-Maria , Volkmann Julia , Bogatsch Holger , Beger Christoph , Gausche Ruth , Weihrauch-Bluher Susann , Pfaffle Roland

Objective: IGF-1 receptor mutations (IGF1RM) are a rare abnormality; however, affected patients exhibit severe postnatal growth retardations without catch-up growth. Although several cases of IGF1RM have been described, a comprehensive retrospective analysis of the potential benefit of rhGH treatment is still missing. The aim of this study was therefore to investigate baseline auxology, response to rhGH therapy and potential metabolic effects in patients with IGF1RM in compari...