Monogenic human obesity syndromes

Recent Prog Horm Res. 2004;59:409-24. doi: 10.1210/rp.59.1.409.


Over the past decade, we have witnessed a major increase in the scale of scientific activity devoted to the study of energy balance and obesity. This explosion of interest has, to a large extent, been driven by the identification of genes responsible for murine obesity syndromes and the novel physiological pathways revealed by those genetic discoveries. We and others recently have identified several single-gene defects causing severe human obesity. Many of these defects have occurred in molecules identical or similar to those identified as a cause of obesity in rodents. This chapter will consider the human monogenic obesity syndromes that have been characterized to date and discuss how far such observations support the physiological role of these molecules in the regulation of human body weight and neuroendocrine function.

Publication types

  • Review

MeSH terms

  • Energy Metabolism
  • Heterozygote
  • Humans
  • Leptin / deficiency
  • Leptin / genetics
  • Leptin / therapeutic use
  • Mutation
  • Obesity / genetics*
  • Phenotype
  • Pro-Opiomelanocortin / genetics
  • Proprotein Convertase 1 / deficiency
  • Receptor, Melanocortin, Type 4 / deficiency
  • Receptors, Cell Surface / deficiency
  • Receptors, Cell Surface / genetics
  • Receptors, Leptin
  • Recombinant Proteins / therapeutic use
  • Syndrome


  • Leptin
  • MC4R protein, human
  • Receptor, Melanocortin, Type 4
  • Receptors, Cell Surface
  • Receptors, Leptin
  • Recombinant Proteins
  • Pro-Opiomelanocortin
  • Proprotein Convertase 1