ECEESPE2025 Poster Presentations MTEabolism, Nutrition and Obesity (125 abstracts)
A comprohensive cohort analysis of 113 paediatric non-syndromic monogenic obesity
Ahmet Kahveci 1 , Selin Uzun 2 , Zerrin Orbak 3 , Ruken Yıldırım 4 , Nihal Hatipoglu 5 , Fatih Kilci 6 , Hatice Nursoy 7 , Hayrullah Manyas 8 , Servan Ozalkak 4 , Barıs Kolbası 9 , Behiye Sarıkaya Ozdemir 10 , Semra Cetinkaya 11 , Hazal Canbaz Ozdemir 12 , Mesut Parlak 13 , Atilla Cayır 14 , Filiz Tutunculer Kokenli 15 , Huseyin Demirbilek 16 , Samim Ozen 2 , Abdullah Bereket 1 , Belma Haliloglu 1 & National Obesity Research Group 17
1Marmara University Department of Pediatric Endocrinology, Pendik Training and Research Hospital, Istanbul, Türkiye; 2Ege University Faculty of Medicine, Department of Pediatric Endocrinology and Diabetes, Izmir, Türkiye; 3Ataturk University Faculty of Medicine, Department of Pediatric Endocrinology, Erzurum, Türkiye; 4Diyarbakır Child’s Hospital, Department of Pediatric Endocrinology, Diyarbakır, Türkiye; 5Erciyes University Faculty of Medicine, Department of Pediatric Endocrinology, Kayseri, Türkiye; 6Kocaeli City Hospital, Department of Pediatric Endocrinology, Kocaeli, Türkiye; 7Bursa Uludag University Faculty of Medicine, Department of Pediatric Endocrinology, Bursa, Türkiye; 8Sanlıurfa Eyyubiye Training and Research Hospital, Department of Pediatric Endocrinology, Sanlıurfa, Türkiye; 9Dicle University Faculty of Medicine, Department of Pediatric Endocrinology, Diyarbakır, Türkiye; 10Ankara Etlik City Hospital, Department of Pediatric Endocrinology, Ankara, Türkiye; 11Dr. Sami Ulus Child Health and Diseases Training and Research Hospital, Department of Pediatric Endocrinology, Ankara, Türkiye; 12Antalya Training and Research Hospital, Department of Pediatric Endocrinology, Antalya, Türkiye; 13Akdeniz University Faculty of Medicine, Department of Pediatric Endocrinology, Antalya, Türkiye; 14Erzurum City Hospital, Department of Pediatric Endocrinology, Erzurum, Türkiye; 15Trakya University Faculty of Medicine, Department of Pediatric Endocrinology, Edirne, Türkiye; 16Hacettepe University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Türkiye; 17Türkiye
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.
| LEP(n = 5) | LEPR(n = 38) | Biallelic MC4R(n = 10) | Monoallelic MC4R(n = 41) | POMC(n = 10) | PCSK1(n = 3) | CEP19(n = 3) | ADYC3(n = 2) | SIM1(n = 1) | |
| Age, mean±SDS | 2, 1±1, 7 | 9, 1±5, 3 | 9, 5±4, 6 | 11, 7±4, 7 | 9, 5±5, 9 | 11, 2±4, 6 | 13, 1±0, 8 | 4, 1±1, 4 | 9, 1 |
| Height-SDS, mean±SD | 0, 7±0, 6 | 0, 9±1, 6 | 1, 4±1, 8 | 1, 2±1, 6 | 1, 7±1, 9 | -1, 3±0, 6 | 0, 4±0, 7 | 1, 8±0, 1 | 2, 6 |
| Weight-SDS, mean±SD | 6, 4±1, 5 | 5, 4±2, 4 | 5, 8±1, 5 | 4, 0±1, 4 | 4, 1±1, 9 | 2, 8±1, 8 | 6, 0±1, 0 | 6, 7±1, 8 | 4, 2 |
| BMI-SDS, mean±SD | 6, 5±1, 4 | 4, 6±1, 2 | 4, 8±1, 0 | 3, 2±0, 9 | 3, 5±1, 5 | 3, 2±1, 3 | 4, 5±0, 3 | 5, 0±0, 7 | 3, 6 |
| BA-SDS, mean±SD(n) | -0, 5±0, 5(3) | 2, 1±2, 3(25) | 0, 5±2, 1(5) | 1, 8±1, 7(27) | -0, 4±2, 3(10) | 0, 3±1, 1(2) | 4, 8(1) | 1, 4 | |
| Obesity-onset, n | |||||||||
| <1 y | 5 | 33 | 9 | 13 | 6 | 3 | 2 | ||
| 1-5 y | 4 | 1 | 15 | 4 | 3 | 1 | |||
| >5 y | 1 | 13 | |||||||
| Hyperphagia, n | 5/5 | 30/38 | 10/10 | 30/41 | 8/10 | 2/3 | 3/3 | 1/2 | 1/1 |
| Homa-IR, mean±SD(n) | 1, 6±1, 2(5) | 6, 1±4, 2(38) | 8, 2±7, 8(8) | 4, 5±3, 8(40) | 5, 7±5, 3(10) | 3, 7(1) | 3, 8±1, 8 | 2, 5 | |
| T2DM, n | 6/38 | 1/10 | 5/41 | 1/3 | 3/3 | ||||
| Adrenal insufficiency, n | 1/41 | 10/10 | 2/3 | ||||||
| GH deficiency, n | 3/38 | 1/10 | 1/3 | ||||||
| Central hypothyroidism, n | 9/38 | 1/41 | 6/10 | 2/3 | 1/1 | ||||
| Hypogonadism, n | 0/1 | 4/13(31) | 0/4 | 0/32 | 1/6(17) | ||||
| Intellectual disability, n | 2/38 | 2/41 | 3/10 | 1/3 | 1/3 | ||||
| Psychiatric disorders, n | 3/38 | 1/10 | 4/41 | 1/3 | 3/3 | 1/2 |
Conclusion: This paediatric cohort details the clinical characteristics of non-syndromic monogenic obesity and demonstrates that LEPR mutations are as common as monoallelic MC4R mutations in Turkiye. LEPR and biallelic MC4R mutations had the worst metabolic profile. LEPR and monoallelic MC4R cases exhibited significantly advanced bone age-SDS without increased height-SDS.
Volume 110
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