Genetic defects of the growth hormone-insulin-like growth factor axis

Our understanding of the physiology of the growth hormone-insulin-like grow th factor (GH-IGF) axis has been characterized by remarkable advances in th e past decade, with clarification of genetic defects in the development of somatotropes, GH secretion and action, and IGF synthesis and action. Combin ed efforts of research in this area and the development of animal models of growth retardation have also indicated new genetic abnormalities that migh t prove to cause short stature in humans. Genetic defects, both established and hypothetical, ave reviewed, and a pragmatic clinical approach to the g eneric investigation of short-statured patients is presented.