Anales de la RANM

162 A N A L E S R A N M R E V I S T A F U N D A D A E N 1 8 7 9 OBESIDADES INFANTILES: DIAGNÓSTICO Y TRATAMIENTO Martos-Moreno GA, et al. An RANM. 2024;141(02): 155 - 163 9. Khera AV, Chaffin M, Wade KH, Timpson KJ, Kaplan LM, Kathiresan S, et al. Polygenic Pre- diction of Weight and Obesity Trajectories from Birth to Adulthood. Cell 2019; 177: 587-596. DOI: 10.1016/j.cell.2019.03.028. 10. Martos-Moreno GÁ, Martínez-Villanueva J, Gon- zález-Leal R, Chowen JA, Argente J. Sex, Puberty, and Ethnicity Have a Strong Influence on Growth and Metabolic Comorbidities in Children and Adolescents With Obesity: Report on 1300 Pa- tients (The Madrid Cohort). Pediatr Obes 2019; 14: e12565. DOI: 10.1111/ijpo.12565. 11. Rodríguez-López R, Gimeno-Ferrer F, Albuquer- que do Santos D, et al. Reviewed and updated Al- gorithm for Genetic Characterization of Syndro- mic Obesity Phenotypes. Curr Genomics 2022; 23: 147-162. DOI: 10.2174/138920292366622042 6093436. 12. Mainieri F, La Bella S, Rinaldi M, et al. Rare gene- tic forms of obesity in childhood and adolescence, a comprehensive review of their molecular mecha- nisms and diagnostic approach. Eur J Pediatr 2023; 182: 4781-4793. DOI: 10.1007/s00431-023-05159-x. 13. Brewer KM, Brewer KK, Richardson NC, Berba- ri NF. Neuronal cilia in energy homeostasis. Front Cell Dev Biol 2022; 10: 1082141. DOI: 10.3389/ fcell.2022.1082141. 14. Bonnefond A, Raimondo A, Stutzmann F, Ghous- saini M, Ramachandrappa S, Bersten DC, et al. Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features. J Clin Invest 201; 123: 3037-41. DOI: 10.1172/JCI68035. 15. Martos-Moreno GÁ, Serra-Juhé C, Pérez-Jurado LA, Argente J. Underdiagnosed Beckwith-Wiede- mann syndrome among early onset obese children. Arch Dis Child. 2014; 99: 965-967. DOI: 10.1136/ archdischild-2014-307097. 16. Coll AP, Farooqi IS, O’Rahilly S. The hormonal control of food intake. Cell 2007; 129: 251–262. DOI: 10.1016/j.cell.2007.04.001. 17. Le Collen L, Delemer B, Poitou C, Vaxillaire M, Toussaint B, Dechaume A, et al.Heterozygous patho- genic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use. Genet Med. 2023; 25: 100857. DOI: 10.1016/j. gim.2023.100857. 18. Folon L, Baron M, Toussaint B, Vaillant E, Boissel M, ScherrerV,et al. Contribution of heterozygous PCSK1 variants to obesity and implications for pre- cision medicine: a case-control study. Lancet Dia- betes Endocrinol 2023; 11: 182–90. DOI: 10.1016/ S2213-8587(22)00392-8. 19. Wade KH, Lam BYH, Melvin A, et al. Loss-of- function mutations in the melanocortin 4 receptor in a UK birth cohort. Nat Med 2021; 27: 1088-1096. DOI: 10.1038/s41591-021-01349. 20. Farooqi IS. Monogenic human obesity syndro- mes. Handb Clin Neurol. 2021; 181: 301-310. DOI: 10.1016/B978-0-12-820683-6.00022-1. 21. Hofker M, Wijmenga C. A supersized list of obesity genes. Nat Genet 2009; 41:139-140. DOI: 10.1038/ ng0209-139. 22. Yang Y, van der Klaauw AA, Zhu L, Cacciottolo TM, He Y, Stadler LKJ, et al. Steroid receptor coactiva- tor-1 modulates the function of Pomc neurons and energy homeostasis. Nat Commun 2019; 10: 1718. DOI: 10.1038/s41467-019-08737-6. 23. Bochukova EG, Huang N, Keogh J, Henning E, Pur- mann C, Blaszczyk K, et al. Large, rare chromosomal deletions associated with severe early-onset obesi- ty. Nature 2010; 463: 666-70. DOI: 10.1038/natu- re08727. 24. Mendes de Oliveira E, Keogh JM, Talbot F, Henning E, Ahmed R, Perdikari A, et al. Obesity-Associated GNAS Mutations and the Melanocortin Pathway. N Engl J Med 2021; 385: 1581-1592. DOI: 10.1056/NE- JMoa2103329. 25. Croizier S, Bouret SG. Molecular control of the development of hypothalamic neurons involved in metabolic regulation. J Chem Neuroanat 2022; 123: 102117. DOI: 10.1016/j.jchemneu.2022.102117. 26. van der Klaauw AA, Croizier S, Mendes de Oliveira E, Stadler LKJ, Park S, Kong Y, et al. Human Sema- phorin 3 Variants Link Melanocortin Circuit Deve- lopment and Energy Balance. Cell 2019; 176: 729- 742.e18. DOI: 10.1016/j.cell.2018.12.009. 27. Trang K, Grant SFA. Genetics and epigenetics in the obesity phenotyping scenario. Rev Endocr Metab Disord 2023; 24: 775-793. DOI: 10.1007/s11154- 023-09804-6. 28. Panera N, Mandato C, Crudele A, Bertrando S, Vajro P, Alisi A. Genetics, epigenetics and transgeneratio- nal transmission of obesity in children. Front Endo- crinol (Lausanne) 2022; 13:1006008. DOI: 10.3389/ fendo.2022.1006008. 29. Machado Lara Carvalho L, de Lima Jorge AA, Ro- meo Bertola D, Victorino Krepischi AC, Rosenberg C. A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis. Curr Obes Rep 2024. DOI: 10.1007/s13679-023-00543-y. 30. Martos-Moreno GÁ, Serra-Juhé C, Pérez-Jurado LA, et al. Aspectos genéticos de la obesidad. Rev Esp Endocrinol Pediatr 2017;8 Suppl (1): 21-32. DOI: 10.3266/RevEspEndocrinolPediatr.pre2017. Apr.391 31. Martos-Moreno GÁ, Martínez-Villanueva Fernán- dez J, Frías-Herrero A, et al. Conservative Treatment for Childhood and Adolescent Obesity: Real World Follow-Up Profiling and Clinical Evolution in 1300 Patients Nutrients 2021, 13, 3847; https://DOI. org/10.3390/nu13113847. 32. Ogle SB, Dewberry LC, Jenkins TM, et al. Outcomes of Bariatric Surgery in Older Ver- sus Younger Adolescents. Pediatrics 2021; 147: e2020024182. DOI: 10.1542/peds.2020-024182. 33. Farooqi IS, Jebb SA, Langmack G, Lawrence E, Cheetham CH, Prentice AM, et al. Effects of re- combinant leptin therapy in a child with conge- nital leptin deficiency. N Engl J Med 1999; 341: 879-84. DOI: 10.1056/NEJM199909163411204. 34. Ryan PM, Seltzer S, Hayward NE, Avelar Rodri- guez D, Sless RT, Hawkes CP. Safety and Effi- cacy of Glucagon-Like Peptide-1 Receptor Ago- nists in Children and Adolescents with Obesity: A Meta-Analysis. J Pediatr 2021: 236: 137-147. e13. doi: 10.1016/j.jpeds.2021.05.009. 35. Clément K, van den Akker E, Argente J, Bahm A, Chung WK, Connors H, et al. Efficacy and safety of setmelanotide, an MC4R agonist, in individuals with severe obesity due to LEPR or POMC deficiency: single-arm, open-label, mul- ticentre, phase 3 trials Lancet Diabetes Endo- crinol 2020; 8: 960-970. DOI: 10.1016/S2213- 8587(20)30364-8.

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