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60th Annual ESPE (ESPE 2022)

Rome, Italy
15 Sep 2022 - 17 Sep 2022

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The 60th ESPE Annual Meeting will now be taking place in Rome, Italy.

Rapid Free Communications

Fat, Metabolism and Obesity

hrp0095rfc4.1 | Fat, Metabolism and Obesity | ESPE2022

Molecular profiling between obese and non-obese PWS patients

Kims Minji , Young Yoons Ju , Dong Yoos Suk , Kun Cheon Chong

Objectives: Prader–Willi syndrome (PWS) is the most common genetic obesity disorder and results from lack of gene expression on paternally inherited chromosome 15q11.2-q13. However, the factors regulating obesity in PWS are poorly understood. We aimed to characterize genetic alterations in PWS using whole genome microarrays to analyze gene expression, and to understand the molecular mechanisms of obesity in PWS patients.Met...

hrp0095rfc4.2 | Fat, Metabolism and Obesity | ESPE2022

Effect of Setmelanotide Treatment in Children and Adolescents With Proopiomelanocortin (POMC) Deficiency, Leptin Receptor (LEPR) Deficiency, and Bardet-Biedl Syndrome (BBS)

Argente Jesús , Kühnen Peter , M. Haqq Andrea , Wabitsch Martin , K. Chung Wendy , van den Akker Erica , Á. Martos-Moreno Gabriel , Mohamed Iqbal Anoop , Forsythe Elizabeth , Dubern Béatrice , Malhotra Sonali , Yuan Goujun , Touchot Nicolas , Dollfus Hélène , Farooqi Sadaf , Clément Karine

Background: The melanocortin-4 receptor (MC4R) pathway is a key regulator of energy balance and satiety. Variants in genes upstream of MC4R encoding leptin receptor (LEPR), proopiomelanocortin (POMC), proprotein convertase subtilisin/kexin type 1(PCSK1) and those involved in Bardet-Biedl syndrome (BBS) can impair MC4R pathway signaling. Clinically, these variants are characterized by hyperphagia (Pathologic insatiable hunger) and early-onset, severe obesity. E...

hrp0095rfc4.3 | Fat, Metabolism and Obesity | ESPE2022

Phospholipid scramblase 4 regulates adipocyte differentiation via PIP3-mediated AKT activation

A.G. Barth Lisa , Nebe Michèle , Kalwa Hermann , Velluva Akhil , Kehr Stephanie , Kiews Wieland , Le Duc Diana , Garten Antje , S. Kirstein Anna

Background and aim: PTEN hamartoma tumor syndrome (PHTS) is caused by germline mutation in the phosphatase and tensin homolog (PTEN) gene. PTEN is a tumor suppressor gene and antagonist of the growth and survival signalling Phosphoinositide 3-kinase (PI3K)/AKT/mammalian target of Rapamycin (mTOR)- cascade. Patients with PHTS, amongst other symptoms, develop lipomas, for which the underlying mechanism is not completely understood. To investigate the role of PTE...

hrp0095rfc4.4 | Fat, Metabolism and Obesity | ESPE2022

New insights of monogenic hypercholesterolemia in pediatric patients: basing on a Chinese cohort

Zhang Qianwen , Wang Xiumin

Background and objectives: Dyslipidemia especially hypercholesterolemia attracts much more attention recently. Given different management and treatment of multiple categories, precise diagnosis becomes increasingly important. However, studies in pediatric patients lacks around the world, especially in China. Consequently, this study was designed to confirm the molecular defect of persistent hypercholesterolemia with next-generation sequencing basing on a singl...

hrp0095rfc4.5 | Fat, Metabolism and Obesity | ESPE2022

Cerebral perfusion following childhood-onset craniopharyngioma and the relationship with metabolic rate

Elsworth Rebecca L. , Naeem Nimra , Hawton Katherine , Narayan Kruthika , Elson Ruth , Taylor-Miller Tashunka , Lithander Fiona E. , Hamilton-Shield Julian P. , Crowne Elizabeth C. , Hinton Elanor C.

Background: Craniopharyngioma is a non-malignant embryonic tumour in the pituitary-hypothalamic area, associated with hypothalamic obesity. Dysfunctional parasympathetic nervous system activity has been proposed as one mechanism underlying alterations in energy metabolism. Arterial spin labelling (ASL) is a non-invasive MRI technique that quantifies brain tissue perfusion as a proxy for functional activity. Here, we measure cerebral perfusion in patients with ...

hrp0095rfc4.6 | Fat, Metabolism and Obesity | ESPE2022

European Consortium of Lipodystrophies Registry, 2022

von Schnurbein Julia , Gambinieri Alessandra , Fernández-Pombo Antia , Akinci Baris , Vatier Camille , Cecchetti Carolina , Adiyaman Cem , Vigoroux Corrine , Araujo-Vilar David , Savage David , Gilio Donatella , Bismuth Elise , Sorkina Ekaterina , Vorona Elena , Santos Silva Ermelinda , Nobecourt Estelle , Csajbok Eva , Santini Ferrucio , Prodam Flavia , Nagel Gabriele , Aimaretti Gianluca , Latanzi Giovanna , Ceccarini Giovanni , Novelli Giuseppe , Yildirim Simsir Ilgin , Jeru Isabelle , Štotl Iztok , Carel Jean-Claude , Writzl Karin , Heldt Katrin , Miehle Konstanze , Kleinendorst Lotte , D’Apice Maria-Rosaria , Beghini Mariana , Vantyghem Marie-Christine , Broekema Marjoleine , Faßhauer Mathias , Stumvoll Michael , Sbraccia Paolo , Ozen Samim , Magno Silvia , Scherer Thomas , Daffara Thomaso , Pekkolay Zafer , Wabitsch Martin

Background: Lipodystrophy syndromes comprise a large group of extremely rare diseases characterized by loss or dysfunction of adipose tissue. Due to their extreme rarity and variability, research in the field of lipodystrophy is difficult for single centres warranting larger co-operations.Methods: Therefore, the European Consortium of Lipodystrophies decided to found an international registry in 2016. This registry is ba...