Molecular defects in the growth hormone-IGF axis.
Many previously uncharacterized cases of poor growth in children, i.e. idiopathic short stature, are now attributable to genetic defects in the GH-IGF-1 axis. This paper will provide an overview of the clinical findings of patients identified with various genetic defects of the GH/IGF-1 axis with an emphasis on the more recently described syndromes.
Lee
Joyce
J
Division of Endocrinology, Department of Pediatrics, CS Mott Childrens Hospital, University of Michigan Health System, Ann Arbor, USA.
Menon
Ram K
RK
D001827:Body Height / Q000235:genetics*; D002648:Child; D006130:Growth Disorders / Q000235:genetics*; D013006:Growth Hormone / Q000172:deficiency / Q000235:genetics*; D006801:Humans; D007030:Hypothalamo-Hypophyseal System / Q000503:physiopathology; D007334:Insulin-Like Growth Factor I / Q000235:genetics*; D011986:Receptors, Somatotropin / Q000235:genetics
D011986:Receptors, Somatotropin; D007334:Insulin-Like Growth Factor I; D013006:Growth Hormone