Akademik Veri Yönetim Sistemi
Joint Congress of the European Society for Paediatric Endocrinology (ESPE) and the European Society of Endocrinology (ESE) 2025: Connecting Endocrinology Across the Life Course, Kobenhavn, Danimarka, 10 - 13 Mayıs 2025, ss.110, (Özet Bildiri)
JOINT580
Introduction: Clinical features of nonsyndromic monogenic obesity are predominantly derived from case-based publications due to rarity of the condition. Here, we aimed to establish the frequency of specific ethiologies among a nationwide cohort of monogenic obesity and describe clinical features and associated manifestations of each specific etiologies.
Methods: Cross-sectional data were collected from 22 paediatric endocrinology centers across Turkiye, including patients with biallelic LP/P variants in LEP, LEPR, POMC, PCSK1, MC4R, SIM1, ADCY3, CEP19 and monoallelic LP/P variants in MC4R. Clinical data and anthropometric measurements prior to specific treatment were analyzed. Statistical analyses were performed for groups with ≥5 cases.
Results: A total of 113 patients (49% female) were evaluated. The most common mutations were monoallelic MC4R(n = 41) and biallelic LEPR(n = 38), followed by POMC(n = 10), biallelic MC4R(n = 10), LEP(n = 5), PCSK1(n = 3), CEP19(n = 3), ADYC3(n = 2), and SIM1(n = 1) mutations (Table). Significant differences were identified in weight-SDS, BMI-SDS, bone age-SDS, and HOMA-IR values (P = 0. 008, <0. 0001, 0. 0075, and 0. 02 respectively) among different ethiologies. LEP mutations were associated with the highest BMI-SDS, while LEPR and biallelic MC4R cases had the worst metaboilic profile. Advanced bone age-SDS was observed in LEPR and monoallelic MC4R cases. The age of obesity-onset was predominantly <1 year in biallelic LEP, LEPR, MC4R, ADCY3, CEP19 and SIM1 mutations and 1-5 years in POMC and PCSK1 mutations. Endocrine dysfunctions were common in LEPR, POMC and PCSK1 cases. Psychiatric disorders and intellectual disability were observed in 11. 5% and 8. 3% of patients, respectively.