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lüll Idiopathic short stature: will genetics influence the choice between GH and IGF-I therapy?Savage MO; Camacho-Hubner C; David A; Metherell LA; Hwa V; Rosenfeld RG; Clark AJEur J Endocrinol 2007[Aug]; 157 Suppl 1 (ä): S33-7BACKGROUND: Idiopathic short stature (ISS) includes a range of conditions. Some are caused by defects in the GH-IGF-I axis. ISS is an approved indication for GH therapy in the USA and a similar approval in Europe may be imminent. Genetic analysis for single-gene defects has made enormous contributions to understanding the physiology of growth regulation. Can this type of investigation help in predicting growth responses to GH or IGF-I therapy? METHODS: The rationale for choice of GH or IGF-I therapy in ISS is reviewed. Many ISS patients have low IGF-I, but most can generate IGF-I levels in response to short-term GH administration. Some GH resistance seems to be present. Mutation analysis in several cohorts of GHIS and ISS patients is reviewed. RESULTS: Low IGF-I levels suggest either unrecognised GH deficiency or GH resistance. In classical GHIS patients, there was a positive relationship between IGFBP-3 levels and height SDS. No relationship exists between mutations and phenotype. There is a wide variability of phenotype in patients carrying identical mutations. Heterozygous GH receptor (GHR) mutations were present in <5% of ISS patients and their role in causing growth defects is questionable. Exceptions are dominant negative mutations that have been shown to disturb growth. CONCLUSIONS: Analysis for single-gene defects does not give sensitive predictions of phenotype and cannot predict responses to GH or IGF-I therapy. Endocrine abnormalities have closer correlations with phenotype and may thus be a better guide to therapeutic responsiveness.|*Body Height[MESH]|Carrier Proteins/genetics[MESH]|Endocrine Glands/metabolism[MESH]|Glycoproteins/genetics[MESH]|Growth Disorders/*drug therapy/*genetics/metabolism[MESH]|Growth Hormone/metabolism/*therapeutic use[MESH]|Humans[MESH]|Insulin-Like Growth Factor I/*therapeutic use[MESH]|Mutation[MESH]|Polymorphism, Single Nucleotide[MESH]|Receptors, Somatotropin/genetics[MESH]|STAT5 Transcription Factor/genetics[MESH] |