Human Leptin and Leptin Receptor Deficiency

I. Sadaf Farooqi and Stephen O'Rahilly

in Genetics of Obesity Syndromes

Published on behalf of Oxford University Press

Published in print July 2009 | ISBN: 9780195300161
Published online October 2012 | e-ISBN: 9780199975198 | DOI:

Series: Oxford Monographs on Medical Genetics

Human Leptin and Leptin Receptor Deficiency

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  • Clinical Genetics
  • Endocrinology and Diabetes


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Several monogenic forms of human obesity have now been identified by searching for mutations homologous to those causing obesity in mice. Although such monogenic obesity syndromes are rare, the characterization of these disorders has provided insights into the role of leptin in human physiology. Importantly, administration of recombinant human leptin in leptin deficiency represents the first rational, mechanistically based therapy for obesity and has the potential to provide immense clinical benefits for the patients concerned.

Chapter.  3676 words.  Illustrated.

Subjects: Clinical Genetics ; Endocrinology and Diabetes

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