SNP Shot: Genomic Insights

Leptin receptor deficiency is a disorder characterized by rapid and extreme weight gain starting in infancy. Infants with this condition are born at a normal weight, but they experience unrelenting hunger, leading to significant weight gain shortly after birth. This constant hunger results in persistent overeating (hyperphagia) and severe obesity. By early childhood, individuals with leptin receptor deficiency often exhibit unusual eating habits, including food-related conflicts with others, food hoarding, and secretive eating.

Individuals with leptin receptor deficiency also commonly experience hypogonadotropic hypogonadism. This hormonal imbalance stems from a decrease in the production of hormones responsible for guiding sexual maturation. As a result, affected individuals may have delayed or absent puberty, and may experience infertility (inability to have children).

Inheritance:

Leptin receptor deficiency follows an autosomal recessive inheritance pattern. This means that both copies of the gene responsible for the leptin receptor, present in each cell, must have mutations for the condition to manifest. Individuals with only one copy of the mutated gene, known as carriers, are typically unaffected by the disorder but can pass the mutated gene to their offspring.