hrp0092s1.3 | Novel Advances in Diabetes and Obesity | ESPE2019

Rare Genetic Forms of Obesity: Clinical Approaches and Current Treatments in 2019

Poitou Christine

Obesity¬ódefined as excess fat mass which impacts on physical health¬óis a complex and multifactorial disease where numerous environmental factors (overeating and/or reduced physical activity) act in concert with genetic factors. Understanding molecular mechanisms of obesity has rapidly improved in recent years due to the development of faster, more specific genetic screening tools (1). Rare genetic obesities are distinguished from more-common polygenic obesities where...

hrp0097p1-65 | Fat, Metabolism and Obesity | ESPE2023

Natural history of corpulence in patients carrying heterozygous pathogenic variants in the five major genes of the leptin-melanocortin pathway.

Nicaise Clarisse , Dubern Béatrice , Poitou Christine , Clement Karine , Tounian Patrick , Lemale Julie , COURBAGE Sophie , Le Bihan Johanne

Introduction: The leptin-melanocortin pathway plays a key-role in weight control. Pathogenic variants in the five major genes (LEP, LEPR, POMC, PCSK1, MC4R) are associated with early severe obesity. However, the specific associated phenotype with presence of mono-allelic variants and especially BMI trajectories are not well known.Objective: In order to identify specific profiles, we compared BMI trajectories during the f...

hrp0089p2-p293 | Multisystem Endocrine Disorders P2 | ESPE2018

What is the Impact of a Structured Healthcare Pathway Dedicated to Patients in Transition on Their Long-term Follow-up?

Menesguen Florence , Tejedor Isabelle , Malivoir Sabine , Faucher Pauline , Halbron Marine , Popelier Marc , Leger Juliane , Netchine Irene , Polak Michel , Bruckert Eric , Poitou Christine , Touraine Philippe

Management of patients presenting a chronic endocrine or metabolic disease during transition period is a challenge for multiple reasons. The department of Adult Endocrinology and Reproductive Medicine in Pitie Salpêtrière Hospital, Paris has been involved in the management of such patients for many years. However, in our own experience, 81% of patients are still followed-up after 1 year, 71% after 3 years and only 49% after 5 years. Based on such experience, we decid...

hrp0086fc13.5 | Management of Obesity | ESPE2016

Effects of AZP-531, a First-in-Class Unacylated Ghrelin Analog, on Food-Related Behaviour in Prader-Willi Patients: A Multi-Center, Randomized, Placebo-Controlled Study

Allas Soraya , Caixas Assumpta , Poitou Christine , Coupaye Muriel , Thuilleaux Denise , Lorenzini Francoise , Diene Gwenaelle , Crino Antonino , Illouz Frederic , Grugni Graziano , Delale Thomas , Abribat Thierry , Tauber Maithe

Background: Prader-Willi syndrome (PWS) is a rare genetic disorder characterized by hyperphagia and abnormal behaviours towards food for both of which no approved treatment is available. Elevated plasma acylated ghrelin (AG) documented at all ages in PWS suggest that the ghrelin system may contribute to the pathophysiology of hyperphagia. Administration of unacylated ghrelin and 8-amino acid analog AZP-531 prevents AG-induced food consumption in animals and improves glucose co...

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...

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...