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 1

hrp0097fc3.1 | Fat, metabolism and obesity 1 | ESPE2023

Early childhood height and weight development in children with monogenic obesity: A European multicenter cohort study

Zorn Stefanie , de Groot Corjan , Brandt Stephanie , von Schnurbein Julia , Abawi Ozair , Bounds Rebecca , Ruck Lisa , Guijoa Blanca , A. Martos-Moreno Gabriel , Nicaise Clarisse , Courbage Sophie , Dubern Béatrice , Poitou Christine , Clément Karine , Argente Jesús , Kühnen Peter , Farooqi Sadaf , Wabitsch Martin , van den Akker Erica

Introduction: Monogenic defects in the leptin-melanocortin pathway result in hyperphagia and severe, early-onset obesity. Knowledge of the natural history of anthropometric parameters in patients with monogenic obesity is essential for diagnosis. However, reliable data on early childhood weight and height development in affected patients are lacking. This study aimed to evaluate the history of height, weight, and BMI development in early childhood in a Europea...

hrp0097fc3.2 | Fat, metabolism and obesity 1 | ESPE2023

Analysis of ligand- and mutation-dependent signaling of the melanocortin 4 receptor (MC4R): an example of the relevance of differential signaling (bias signaling)

Ruck Lisa , Paisdzior Sarah , Scheerer Patrick , Wiegand Susanna , Kleinau Gunnar , A. Heyder Nicolas , G. Beck-Sickinger Annette , C. Troll Manuel , Biebermann Heike , Kühnen Peter

Introduction: The melanocortin 4 receptor (MC4R) is a G protein coupled receptor (GPCR) and plays a pivotal role in the central regulation of body weight in the hypothalamus. In the context of the leptin-melanocortin signaling pathway, the MC4R is activated by the endogenous ligands a- and b-MSH (melanocyte-stimulating hormone). This leads to the feeling of satiety and to a reduction in food intake. Mutations within the genes leptin, leptin receptor (LEPR), pr...

hrp0097fc3.3 | Fat, metabolism and obesity 1 | ESPE2023

Frequency of Obesity-Related Gene Variants in a European Population With Early-Onset, Severe Obesity

W. le Roux Carel , Dominguez-Riscart Jesus , Rosaria Licenziati Maria , Soriano-Guillén Leandro , Haliloglu Belma , Zalin Anjali , Filomena Madeo Simona , Sleiman Patrick , Savoie Charles , Kerem Liya , Argente Jesús

Background: Patients with genetic variants in the melanocortin-4 receptor (MC4R) pathway may present with early-onset, severe obesity and hyperphagia. Increasing awareness of genetic testing could improve diagnosis of rare genetic causes of obesity and identify patients who might benefit from targeted therapy; however, such testing has been limited. Moreover, the frequency of specific genetic variants in this population is currently unknown. The Rare Obesity A...

hrp0097fc3.4 | Fat, metabolism and obesity 1 | ESPE2023

A Novel Mutation in DYRK1B Associated With Abdominal Obesity Metabolic Syndrome 3 (AOMS3)

Faisal Mohamadsalih Ghassan , Al-Barazenji Tara , Omar Mohammed Idris , Nedham A J Alshafai Mashael , Hussain Khalid

Background: Dual-specificity tyrosine phosphorylation-regulated kinase 1B (DYRK1B) is a nutrient-sensing protein that suppresses the RAS–RAF–MEK pathway and is known to have a role in glucose uptake and glycolysis. The expression of DYRK1B increases during adipogenic differentiation suggesting an important role in adipogenesis. Mutations in DYRK1B have been described in three Iranian families and five Caucasian patients w...

hrp0097fc3.5 | Fat, metabolism and obesity 1 | ESPE2023

Early corneal nerve loss in children with obesity and type 2 diabetes

Gad Hoda , Dauleh Hajar , Chirayath Shiga , Pasha Maheen , Haris Basma , Amin Rasha , Afyouni Houda , Petrovski Goran , Shehzad Saira , Khalifa Amel , Mohammed Ahmed Elwaseila , Mohamadsalih Ghassan , Campbell Judith , Jolkka Sari , Biglang-awa Roshirl , Cuatrona Erlinda , Inso Gina , Razon Gerald , A. Hendaus Mohamed , Elgassim Einas , N. Petropoulos Ioannis , Ponirakis Georgios , A. Malik Rayaz , Hussain Khalid

Background: Childhood obesity is highly prevalent in the MENA region and may be associated with sub-clinical neuropathy.Methods: Children with obesity with normal glucose tolerance (NGT), impaired glucose tolerance (IGT) and Type 2 diabetes Mellitus (T2DM) and healthy controls (HC) underwent body composition analysis, assessment of vibration perception threshold (VPT), monofilament sensitivity and corneal confocal micros...

hrp0097fc3.6 | Fat, metabolism and obesity 1 | ESPE2023

Impact of Setmelanotide on Future Metabolic Syndrome Risk in Pediatric Patients With Bardet-Biedl Syndrome

Haqq Andrea , Poitou Christine , K. Chung Wendy , Iqbal Anoop , Forsythe Elizabeth , Malhotra Sonali , Touchot Nicolas , Clément Karine , Argente Jesús

Background: Children with metabolic syndrome carry an increased risk for development of type 2 diabetes mellitus (T2DM) and cardiovascular disease (CVD) in adulthood. Patients with rare syndromic obesity, such as Bardet-Biedl syndrome (BBS), experience early-onset, severe obesity, which may convey an increased risk for developing obesity-related comorbidities and metabolic syndrome later in life. In clinical trials, treatment with the melanocortin-4 receptor a...