Case of infantile obesity
DOI:
https://doi.org/10.18203/2349-3291.ijcp20250417Keywords:
Leptin receptor, Targeted treatment, Infantile obesityAbstract
Congenital leptin receptor deficiency is a rare autosomal recessive form of monogenic obesity caused by loss-of-function mutations in the leptin receptor function. Due to its subtle signs and symptoms early diagnosis of this becomes a challenge. We report a case of a 7-month-old male child who presented with the complaints of excessive weight gain on exclusive breast feeding with no dysmorphism or developmental delay. Whole exome sequencing helped in diagnosis of leptin receptor deficiency. Specific investigations are needed for diagnosis of genetic forms of obesity. Specific diagnosis helps to prognosticate and counsel parents and help physicians to improve their care in patients with severe early onset obesity.
Metrics
References
Paz-Filho G, Mastronardi C, Delibasi T, Wong ML, Licinio J. Congenital leptin deficiency: diagnosis and effects of leptin replacement therapy. Arq Bras Endocrinol Metabol. 2010;54(8):690-7. DOI: https://doi.org/10.1590/S0004-27302010000800005
Farooqi IS, Wangensteen T, Collins S, Kimber W, Matarese G, Keogh JM, et al. Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor. N Engl J Med. 2007;356(3):237-47. DOI: https://doi.org/10.1056/NEJMoa063988
Huvenne H, Dubern B, Clément K, Poitou C. Rare Genetic Forms of Obesity: Clinical Approach and Current Treatments in 2016. Obes Facts. 2016;9(3):158-73. DOI: https://doi.org/10.1159/000445061
Von Schnurbein J, Zorn S, Nunziata A, Brandt S, Moepps B, Funcke JB, et al. Classification of Congenital Leptin Deficiency. J Clin Endocrinol Metabol. 2024;109(10):2602-16. DOI: https://doi.org/10.1210/clinem/dgae149
Saad MF, Damani S, Gingerich RL, Riad-Gabriel MG, Khan A, Boyadjian R, et al. Sexual Dimorphism in Plasma Leptin Concentration. J Clin Endocrinol Metabol. 1997;82(2):579-84. DOI: https://doi.org/10.1210/jcem.82.2.3739
Collins S, Kuhn C, Petro A, Swick AG, Chrunyk BA, Surwit RS. Role of leptin in fat regulation. Nature. 1996;380(6576):677. DOI: https://doi.org/10.1038/380677a0
Kelesidis T, Kelesidis I, Chou S, Mantzoros CS. Narrative review: the role of leptin in human physiology: emerging clinical applications. Ann Intern Med. 2010;152(2):93-100. DOI: https://doi.org/10.7326/0003-4819-152-2-201001190-00008
Chan JL, Matarese G, Shetty GK, Raciti P, Kelesidis I, Aufiero D, et al. Differential regulation of metabolic, neuroendocrine, and immune function by leptin in humans. Proc Natl Acad Sci USA. 2006;103(22):8481-6. DOI: https://doi.org/10.1073/pnas.0505429103
Kalinderi K, Goula V, Sapountzi E, Tsinopoulou VR, Fidani L. Syndromic and Monogenic Obesity: New Opportunities Due to Genetic-Based Pharmacological Treatment. Children. 2024;11(2):153. DOI: https://doi.org/10.3390/children11020153
Mohammed I, Haris B, Al-Barazenji T, Vasudeva D, Tomei S, Al Azwani I, et al. Understanding the Genetics of Early-Onset Obesity in a Cohort of Children From Qatar. J Clin Endocrinol Metabol. 2023;108(12):3201-13. DOI: https://doi.org/10.1210/clinem/dgad366
Kleinendorst L, Abawi O, Van der Kamp HJ, Alders M, Meijers-Heijboer HEJ, van Rossum EFC, et al. Leptin receptor deficiency: a systematic literature review and prevalence estimation based on population genetics. Eur J Endocrinol. 2020;182(1):47-56. DOI: https://doi.org/10.1530/EJE-19-0678
Xu S, Xue Y. Pediatric obesity: Causes, symptoms, prevention and treatment. Exp Ther Med. 2016;11(1):15-20. DOI: https://doi.org/10.3892/etm.2015.2853
Downloads
Published
How to Cite
Issue
Section
