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LEPR Deficiency

Meaning

LEPR Deficiency is a rare, autosomal recessive genetic disorder characterized by a loss-of-function mutation in the gene encoding the Leptin Receptor (LEPR), leading to a state of profound leptin resistance in the body. Leptin is a key satiety hormone produced by adipocytes, and its inability to signal through the non-functional receptor results in a severe, early-onset hyperphagia (excessive appetite) and morbid obesity, often accompanied by neuroendocrine and reproductive dysfunction. Clinically, this condition is a model for understanding the central role of leptin signaling in human energy homeostasis and fertility.