Obesity in sibs associated with leptin receptor gene polymorphism (LEPR: C.233A>G, p.Arg223Gln (rs1137101))

In this article, we report two cases of obesity in sibs associated with a leptin receptor (LEPR) gene polymorphism (LEPR: с.233A>G, p.Arg223Gln (rs1137101)). To date, more than 9 thousand polymorphic variants of this gene have been identified. The p.Arg223Gln polymorphism leading to an amino acid substitution in the extracellular domain of a receptor that is common to all its isoforms is one of the best-investigated polymorphisms. An association was found between this polymorphism and increased weight and obesity. Several dozen cases of LEPR mutations in patients with early onset of rapidly progressive severe morbid obesity and hyperphagic eating behaviour have been described in foreign literature. We discuss the features of the course of this obesity “phenotype”, the choice of further follow-up strategy, and treatment options based on the clinical cases that we studied. Currently, both patients continue to be followed up in outpatient settings. The doctor gave their mother a talk about the need for strict adherence to a healthy dietary pattern, and restricting children`s access to food products. A low-calorie diet with a low carb and fat content for 6 months has been recommended. The total caloric content of food recommended for a boy is 1700 kcal/day, and for a girl – 1200 kcal/day. The family was referred for psychotherapy to change their eating behaviour. An individual 12-month program including pediatric endocrinology follow-up appointments and clinical examinations of children was created.

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