Congenital leptin deficiency follows which genetic inheritance pattern?

Congenital leptin deficiency is associated with mutations in the LEP gene, which encodes the hormone leptin. The condition is primarily inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to express the deficiency. This form of inheritance is characterized by both parents being carriers of the mutation, which might not present symptoms unless both alleles are affected.

In the context of congenital leptin deficiency, individuals with one normal copy of the gene can produce enough leptin, thus they typically do not show symptoms of deficiency. Therefore, the autosomal recessive inheritance pattern is significant since it assures that both copies must be defective for the clinical symptoms, such as severe obesity and associated metabolic disturbances, to manifest. Understanding this pattern is essential for identifying at-risk individuals and informing assessments related to obesity medicine.