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hrp0095p1-474 | Fat, Metabolism and Obesity | ESPE2022

A National Multicenter Study of Leptin (LEP) and Leptin Receptor (LEPR) Deficiency and a Systematic Review of Patients with Pathogenic LEP/LEPR Variants

Besci Özge , Nur Fırat Sevde , Özen Samim , Çetinkaya Semra , Akın Leyla , Kör Yılmaz , Pekkolay Zafer , Özalkak Şervan , Özsu Elif , Savaş Erdeve Şenay , Poyrazoğlu Şükran , Berberoğlu Merih , Aydın Murat , Omma Tülay , Akıncı Barış , Demir Korcan , Arioglu Oral Elif

Introduction: Homozygous leptin (LEP) and leptin receptor (LEPR) mutations lead to childhood-onset obesity due to deficient leptin signaling. The specific aims of this work are to explore genotype/phenotype correlations in a national multicenter cohort of 18 subjects with leptin (LEP) and leptin receptor (LEPR) deficiency, report on the long-term clinical follow-up of these rare cases, and systematically review all patients with pathogenic <e...

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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...

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ESPE Abstracts

A National Multicenter Study of Leptin (LEP) and Leptin Receptor (LEPR) Deficiency and a Systematic Review of Patients with Pathogenic LEP/LEPR Variants

European Consortium of Lipodystrophies Registry, 2022

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