Previous issue | Volume 97 | ESPE2023

61st Annual ESPE (ESPE 2023)

The Hague, Netherlands
21 Sep 2023 - 23 Sep 2023

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The 61st ESPE Annual Meeting will now be taking place in The Hague, The Netherlands

Free Communications

Fat, metabolism and obesity 2

hrp0097fc8.1 | Fat, metabolism and obesity 2 | ESPE2023

Aberrant expression of agouti signaling protein (ASIP) as a new cause of monogenic severe childhood obesity

Landgraf Kathrin , Kempf Elena , Stein Robert , Hanschkow Martha , Boczki Paula , Kühnen Peter , Kiess Wieland , Blüher Matthias , Körner Antje

Here we identified and characterized a heterozygous tandem duplication at the ASIP (agouti-signaling protein) gene locus causing ubiquitous, ectopic ASIP expression in a female index patient with extreme childhood obesity. In patient-derived adipose tissue samples, we observed pronounced differentiation of stroma-vascular fraction (SVF) cells into adipocytes in the patient compared to normal control cells. We further found reduced mitochondrial maximum respir...

hrp0097fc8.2 | Fat, metabolism and obesity 2 | ESPE2023

Frequency of MC4R Pathway Variants in a European Cohort of Individuals With Early-Onset Severe Obesity

P. Goldstone Anthony , Dominguez-Riscart Jesus , Rosaria Umano Giuseppina , Pinhas-Hamiel Orit , Yildiz Melek , Manco Melania , Sleiman Patrick , Savoie Charles , Giri Dinesh , Argente Jesús

The melanocortin-4 receptor (MC4R) pathway is critical for the regulation of hunger, energy balance, and weight regulation. Individuals who carry variants in MC4R pathway genes may present with early-onset severe obesity and hyperphagia. Historically, genetic testing in individuals with severe obesity has been limited. The Rare Obesity Advanced Diagnosis™ genetic testing program aims to enhance access to genetic testing for European individuals with suspected rare geneti...

hrp0097fc8.3 | Fat, metabolism and obesity 2 | ESPE2023

Impact of growth hormone therapy on body mass index in childhood-onset craniopharyngioma: a multicenter Italian study in 117 patients.

Ciacchini Benedetta , Zucchini Stefano , Pozzobon Gabriella , Pedicelli Stefania , Parpagnoli Maria , Driul Daniela , Matarazzo Patrizia , Baronio Federico , Panciroli Marta , Partenope Cristina , Nardini Beatrice , Ubertini Graziamaria , Menardi Rachele , Guzzetti Chiara , Iughetti Lorenzo , Aversa Tommaso , Di Mase Raffaella , Cassio Alessandra , Di Iorgi Natascia

Background: patients with childhood-onset craniopharyngioma (CO-CP) present long-term outcomes, including growth hormone (GH) deficiency and obesity. Currently, data on the effects of GH therapy (GHT) on the body mass index (BMI) in CP are inconclusive. Aims of the study were to evaluate BMI over time and its determinants in a large cohort of CO-CP patients treated with GH therapy (GHT).Methods: a multicenter retrospecti...

hrp0097fc8.4 | Fat, metabolism and obesity 2 | ESPE2023

Irs1 expression in peripheral blood associates with obesity and cardiovascular risk parameters in school-age girls

Gómez-Vilarrubla Ariadna , Niubó-Pallàs Maria , Mas-Parés Berta , Carreras-Badosa Gemma , Bonmatí Alexandra , Estevez-Reinares Enrique , Martinez-Calcerrada Jose-María , de Zegher Francis , Ibañez Lourdes , López-Bermejo Abel , Bassols Judit

Background and Aim: IRS1 (Insulin Receptor Substrate 1) is involved in the insulin signalling pathway and abnormalities thereof have been related to metabolic disorders and obesity. In obese subjects, insulin resistance has been associated with changes in IRS1 expression in peripheral in blood. Sex-based differences in cardiovascular disease are well established. Previous results from our group disclosed the association between IRS1 placental methylation with ...

hrp0097fc8.5 | Fat, metabolism and obesity 2 | ESPE2023

Impact of Setmelanotide on Metabolic Syndrome Risk in Pediatric Patients With POMC and LEPR Deficiency

Wabitsch Martin , K. Chung Wendy , Kühnen Peter , Swain James , C. Garrison Jill , Touchot Nicolas , Argente Jesús , Clément Karine

Background: Patients with rare monogenic obesity caused by biallelic variants of genes such as proopiomelanocortin (POMC; including variants in PCSK1) or leptin receptor (LEPR) deficiency, experience hyperphagia (a pathologic, insatiable hunger) and early-onset, severe obesity. This suggests potential increased risk over time of obesity-related comorbidities, including metabolic syndrome, a cluster of conditions associated with increased risk of cardiovascular...

hrp0097fc8.6 | Fat, metabolism and obesity 2 | ESPE2023

Liraglutide treatment in adolescents with extreme obesity - Effects on weight loss in the first 9 months under real-life conditions

Schirmer Melanie , Brandt Stephanie , Knupfer Magdalena , Zorn Stefanie , Weihrauch-Blüher Susann , Wabitsch Martin

Introduction: The Glucagon-like Peptide(GLP1)-analogue liraglutide is the first drug approved for the treatment of obesity in adolescents in Europe. While clinically relevant effects of liraglutide treatment in adolescents with obesity had been shown in a phase III study, there are no reports about the use under real-life conditions in these patients. Our aim was to report the effect of treatment with liraglutide on body weight loss in a cohort of adolescents ...