Abstract
There are numerous causes, such as environmental factors, medications, endocrine disorders, and genetic factors, that can lead to obesity. However, severe early-onset obesity with abnormal feeding behavior, mental retardation, dysmorphic features, organ-specific developmental abnormalities, and endocrine disorders suggest a genetic etiology. Mutations in genes related to the leptin-melanocortin pathway play a key role in genetic obesity. This pathway controls hypothalamic regulation of food intake. A few cases have been reported to have mutations in leptin (LEP) or leptin receptor (LEPR) genes. The cases had severe early-onset obesity, hyperphagia, and additional features, such as altered immune function, hypogonadism, and hypothyroidism. We present a 3-year-old male patient with severe early-onset obesity whose genetic analysis revealed a homozygous, novel, and pathogenic variant (c.1603+2T>C) in LEPR.
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We would like to express our gratitude to the patient’s parents for their understanding and cooperation in this study.
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Armağan, C., Yılmaz, C., Koç, A. et al. A toddler with a novel LEPR mutation. Hormones 18, 237–240 (2019). https://doi.org/10.1007/s42000-019-00097-6
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DOI: https://doi.org/10.1007/s42000-019-00097-6