What is the role of congenital leptin deficiency in the etiology of obesity?

Updated: Jun 09, 2021
  • Author: Osama Hamdy, MD, PhD; Chief Editor: Romesh Khardori, MD, PhD, FACP  more...
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Rare cases of humans with congenital leptin deficiency caused by mutations in the leptin gene have been identified. (The involved band is at 7q31.) The disorder is autosomal recessive and manifested by severe obesity and hyperphagia accompanied by metabolic, neuroendocrine, and immune dysfunction. [82] It is exquisitely sensitive to leptin injection, with reduced dietary intake and profound weight loss.

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