THE BROAD-SPECTRUM OF INHERITED GROWTH-HORMONE INSENSITIVITY SYNDROME

Citation
Lb. Johnston et al., THE BROAD-SPECTRUM OF INHERITED GROWTH-HORMONE INSENSITIVITY SYNDROME, Trends in endocrinology and metabolism, 9(6), 1998, pp. 228-232
Citations number
30
Categorie Soggetti
Endocrynology & Metabolism
ISSN journal
10432760
Volume
9
Issue
6
Year of publication
1998
Pages
228 - 232
Database
ISI
SICI code
1043-2760(1998)9:6<228:TBOIGI>2.0.ZU;2-S
Abstract
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.