Lb. Johnston et al., THE BROAD-SPECTRUM OF INHERITED GROWTH-HORMONE INSENSITIVITY SYNDROME, Trends in endocrinology and metabolism, 9(6), 1998, pp. 228-232
Growth hormone (GH) insensitivity syndrome (GHIS) results in severe sh
ort stature and metabolic disturbances, but when this disorder is stud
ied in more detail if is clear that there is marked clinical and bioch
emical heterogeneity. Many genetic defects of the GH receptor have bee
n reported in inherited GHIS, but it now seems likely that some cases
might be the result of defects of other genes or of links in the post-
receptor cascade.