Deficiency of insulin-like growth factor-I (IGF-I) results in growth failure. A variety of molecular defects have been found to underlie severe primary IGF-I deficiency (IGFD), in which serum IGF-I concentrations are substantially decreased and fail to respond to GH therapy. Identification of more patients with primary or secondary IGFD is likely with investigative and diagnostic progress, particularly in the assessment of children with idiopathic short stature. Diagnosis of IGFD requires accurate and reliable IGF-I assays, adequate normative data for reference, and knowledge of IGF-I physiology for proper interpretation of data. Recombinant human IGF-I (rhIGF-I) treatment improves stature in patients with severe primary IGFD, and has also been shown to improve glycaemic control and insulin sensitivity in patients with severe insulin resistance. Ongoing studies of patients receiving rhIGF-I will allow further evaluation of the clinical utility of this treatment, with concurrent increase in our understanding of IGF-I and conditions of IGFD.
Journal of Pediatric Endocrinology and Metabolism, 2010, Vol 23, Issue 1-2, p. 3-16