Modern Pediatrics. Ukraine. (2026).2(154): 64-68. doi: 10.15574/SP.2026.2(154).6468
Bolshova O. V.¹, Ryznychuk M. O.², Malinovska T. M.¹, Kvachenyuk D. A.^1
1SI «V.P. Komisarenko Institute of Endocrinology and Metabolism of the NAMS of Ukraine», Kyiv
²Bukovinian State Medical University, Chernivtsi, Ukraine

For citation: Bolshova OV, Ryznychuk MO, Malinovska TM, Kvachenyuk DA. (2026). Genetic variants of the leptin receptor (LEPR) and metabolic profile in children with hypothalamic obesity. Modern Pediatrics. Ukraine. 2(154): 64-68. doi: 10.15574/SP.2026.2(154).6468
Article received: Dec 05, 2025. Accepted for publication: Mar 16, 2026.

The relevance of this study is determined by the rapid increase in the prevalence of obesity among children and adolescents worldwide, which is accompanied by the development of metabolic disorders and an elevated risk of chronic diseases in adulthood. Investigation of genetic variants of LEPR, particularly the Q223R polymorphism, is essential for understanding individual differences in the development of hormonal and metabolic dysfunctions and for advancing personalized approaches to the prevention and treatment of obesity.
Aim – to assess the impact of the LEPR Q223R polymorphism on the hormonal and metabolic profile of children with hypothalamic obesity.
Materials and methods. The study included 36 children aged 14.53±2.24 years. Anthropometric parameters, insulin levels, HOMA-IR, leptin, glycated hemoglobin, and vitamin D were measured. Genotyping was performed using polymerase chain reaction, and the results were processed statistically according to standardized methodologies.
Results. The obtained data demonstrated that children with the G/G genotype had the most pronounced metabolic disturbances, including the highest body mass index, insulin levels, leptin concentrations, and insulin resistance. Heterozygous carriers (A/G) showed intermediate values, whereas children with the A/A genotype exhibited the most favorable hormonal and metabolic profile. All participants had vitamin D insufficiency or deficiency, which may potentiate leptin resistance and metabolic impairments, particularly in carriers of the G allele.
Conclusions. The LEPR Q223R polymorphism significantly influences the severity of hormonal and metabolic disturbances in children with hypothalamic obesity. The presence of the G allele is associated with a higher risk of insulin resistance, hyperleptinemia, and increased susceptibility to weight gain. The А/А genotype is characterized by the most favorable metabolic profile among the studied genotypes. Assessing the LEPR genotype together with vitamin D status may enhance the effectiveness of personalized management strategies for these patients.
The research was carried out in accordance with the principles of the Declaration of Helsinki. The informed consent of the patients was obtained for conducting the studies.
The authors declare no conflict of interest.
Keywords: hypothalamic obesity, children, leptin, insulin, LEPR gene polymorphism rs1137101.

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