Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville, VIC 3052, Australia.
Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):207-20. doi: 10.1016/j.beem.2010.09.010.
Childhood overweight and obesity is highly prevalent within society. In the majority of individuals, weight gain is the result of exposure to an 'obesogenic' environment, superimposed on a background of genetic susceptibility brought about by evolutionary adaptation. These individuals tend to be tall in childhood with a normal final adult height, as opposed to those who have an underlying monogenic cause where short stature is more common (although not universal). Identifying genetic causes of weight gain, or tall stature and overgrowth, within this setting can be extremely problematic and yet it is imperative that clinicians remain alert, as identification of a genetic diagnosis has major implications for the individual, family and potential offspring. Alongside this, the recognition of new genetic mutations in this area is furthering our knowledge on the important mechanisms that regulate childhood growth and body composition. This review describes the genetic syndromes associated with obesity and overgrowth.
儿童超重和肥胖在社会中非常普遍。在大多数人中，体重增加是暴露于“肥胖环境”的结果，这种环境叠加了进化适应带来的遗传易感性背景。这些人在童年时期往往很高，成年后最终身高正常，而不是那些有潜在单基因病因的人，后者更常见（尽管并非普遍）矮小身材。在这种情况下，识别体重增加或身高和过度生长的遗传原因可能会非常棘手，但临床医生必须保持警惕，因为确定遗传诊断对个人、家庭和潜在后代都有重大影响。除此之外，该领域新基因突变的识别也进一步加深了我们对调节儿童生长和身体成分的重要机制的认识。这篇综述描述了与肥胖和过度生长相关的遗传综合征。
