ESPE2023 Free Communications Fat, metabolism and obesity 1 (6 abstracts)
Early childhood height and weight development in children with monogenic obesity: A European multicenter cohort study
Stefanie Zorn 1 , Corjan de Groot 2 , Stephanie Brandt 1 , Julia von Schnurbein 1 , Ozair Abawi 2 , Rebecca Bounds 3 , Lisa Ruck 4 , Blanca Guijoa 5,6 , Gabriel A. Martos-Moreno 5,6 , Clarisse Nicaise 7 , Sophie Courbage 7 , Béatrice Dubern 7,8 , Christine Poitou 8,9 , Karine Clément 8,9 , Jesús Argente 5,6 , Peter Kühnen 4 , Sadaf Farooqi 3 , Martin Wabitsch 1 & Erica van den Akker 2
1Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm, Germany. 2Division for Paediatric Endocrinology and Obesity Center CGG, Department of Pediatrics, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, Netherlands. 3Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge Biomedical Research Centre, University of Cambridge, Addenbrooke’s Hospital, Cambridge, United Kingdom. 4Department of Pediatric Endocrinology, Charité Universitätsmedizin Berlin, Berlin, Germany. 5Departments of Pediatrics & Pediatric Endocrinology. Research Institute "La Princesa". Department of Pediatrics, Hospital Infantil Universitario Niño Jesús, Universidad Autónoma de Madrid, Madrid, Spain. 6Centro de Investigación Biomédica en Red de Fisiopatología de la Obesidad y Nutriciόn (CIBEROBN). Instituto de Salud Carlos III, Madrid, Spain. 7Reference Centre for Rare Diseases PRADORT (PRADer-Willi Syndrome and other Rare Obesities with Eating Disorders), Nutrition and Gastroenterology Department, Assistance Publique-Hôpitaux de Paris (AP-HP), Trousseau Hospital Paris, Paris, France. 8INSERM Research Unit: Nutrition and Obesity; Systemic Approaches (NutriOmique) Research Group, Sorbonne University, Paris, France. 9Reference Centre for Rare Diseases PRADORT (PRADer-Willi Syndrome and other Rare Obesities with Eating Disorders), Nutrition Department, Assistance Publique-Hôpitaux de Paris (AP-HP), Pitié-Salp>êtrière Hospital Paris, Paris, France
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 European cohort of patients with monogenic obesity.
Methods: In this multicenter cohort study, 152 patients diagnosed with biallelic (likely) pathogenic variants in the LEP (n=9), LEPR (n=54), POMC (n=11), PCSK1 (n=2), or MC4R (n=16) gene or diagnosed with monoallelic (likely) pathogenic MC4R gene variants (n=60) were included from six European centers (Berlin, Cambridge, Madrid, Ulm, Paris, Rotterdam). Early childhood weight and height data were collected from birth to five years of age. Height, weight, and BMI development were compared between the different forms of monogenic obesity based on the WHO growth reference standards.
Results: Patients with biallelic LEP, LEPR and MC4R variants had a steep increase in BMI and BMI SDS in the first year of life, resulting in a significantly higher BMI and BMI SDS at the age of one year (LEP:27.8±3.2kg/m2, 5.48±1.19; LEPR:28.3±5.8kg/m2, 5.54±1.91; MC4R:26.2±7.3kg/m2, 4.47±2.45) than in patients with monoallelic MC4R variants (19.3±2.3 kg/m2, 1.66±1.28; P<0.05), respectively. After the first year of age, BMI values in patients with biallelic LEP, LEPR, and MC4R variants reached a plateau that lasted until five years of age. In patients with biallelic POMC variants, BMI and BMI SDS increased up to two years of age (27.1±7.0 kg/m2, 5.23±2.29), followed by BMI stabilization. Body length at birth was similar in all patient groups. However, patients with biallelic MC4R variants had significantly greater length SDS values (2.27±1.57) than patients with biallelic LEP (0.47±1.34, P<0.05) and LEPR variants (0.55±1.58, P<0.05) at the age of six months, which remained greater until the age of five years.
Conclusion: In this large multicenter cohort study of patients with monogenic obesity, early childhood BMI development is characterized by a steep increase in the first year of life (biallelic LEP, LEPR and MC4R variants) or in the first two years of life (biallelic POMC variants), followed by a plateau. In contrast to patients with other forms of monogenic obesity, patients with biallelic MC4R variants exhibited accelerated growth from six months onwards.
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