Primary growth hormone insenitivity syndrome - A review

Primary growth hormone insensitivity produces a clinical picture of severe GH deficiency, but with elevated serum levels of GH as the result of the inability to respond normally to endogenous GH, with absence of feedback suppression of GH release. Since the original description of GH receptor deficiency by Laron and colleagues, only 230 cases have been reported. In this review the authors discuss the clinical and biochemical aspects, the molecular genetic and treatment of this syndrome.