SNP Shot: Genomic Insights

Congenital leptin deficiency is a disorder characterized by rapid and severe weight gain, starting in infancy. Infants with this condition are born at a normal weight but experience insatiable hunger, leading to quick and substantial weight gain. If left untreated, this intense hunger persists, resulting in persistent overeating (hyperphagia) and obesity. From early childhood, those affected may exhibit unusual eating patterns, including aggression over food, hiding food, and secretive eating.

Individuals with congenital leptin deficiency also experience hypogonadotropic hypogonadism. This condition arises from insufficient production of hormones crucial for proper sexual development. Consequently, without intervention, those affected may face delayed or absent puberty and potential infertility (inability to have children).

Inheritance:

The inheritance pattern for this condition is autosomal recessive. This means that both copies of the relevant gene within each cell must have mutations for the condition to manifest. Individuals who have a child with an autosomal recessive condition each carry one copy of the mutated gene, but generally do not exhibit any symptoms of the condition themselves.