Insights into obesity and insulin resistance from the study of extreme human phenotypes.
The detailed study of rare, extreme human phenotypes has a long and distinguished history in endocrinology. Such individuals have often acted as 'experiments of nature' providing important novel information regarding endocrine physiology and mechanistic insights relevant to the study of more common endocrine disorders. This review presents a personal experience of the study of two such extreme phenotypes, obesity and severe insulin resistance.
O'Rahilly
Stephen
S
Department of Medicine and Clinical Biochemistry, Box 157, Addenbrooke's Hospital, University of Cambridge, Cambridge CB2 2QQ, UK. soorahill@hgmp.mrc.ac.uk
D003920:Diabetes Mellitus / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics; D006801:Humans; D007333:Insulin Resistance / Q000235:genetics*; D009765:Obesity; D009767:Obesity, Morbid / Q000235:genetics*; D010641:Phenotype