Key result
Growth hormone insensitivity syndrome is a heterogeneous disorder with clinical features ranging from classical to moderate abnormalities, and partial insensitivity may overlap with idiopathic short stature.
GH insensitivity syndrome is a heterogeneous disorder with a spectrum of clinical and biochemical features that can overlap with idiopathic short stature.
Requires careful differential diagnosis in short stature; leaves open refined genetic criteria for GH insensitivity.
The study of genetic growth hormone (GH) insensitivity is an evolving field. GH insensitivity syndrome (GHIS), otherwise known as Laron syndrome, is a heterogeneous disorder. Biochemical features consist of severe insulin-like growth factor I (IGF-I) and IGF-binding protein 3 (IGFBP-3) deficiency and elevated GH secretion. In a heterogeneous 'European' cohort of GHIS patients, features varied from classical to moderate abnormalities of phenotype and endocrine disturbance. A study of facial features within this series showed that a mild subgroup existed with normal facies, mild short stature and moderate biochemical abnormalities. Overlap with idiopathic short stature (ISS) exists, with heterozygous mutations of the GH receptor demonstrated to cause impaired growth. This 'partial' GHIS has not yet been defined endocrinologically. GH sensitivity, measured by IGF-I and IGFBP-3 responses in the IGF-I generation test, may reveal abnormalities in ISS, although it is likely that the dose of recombinant human GH and frequency of sampling in the test need to be modified.
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Savage et al. (2001) conducted a review in Growth hormone insensitivity syndrome (GHIS). Growth hormone insensitivity syndrome is a heterogeneous disorder with clinical features ranging from classical to moderate abnormalities, and partial insensitivity may overlap with idiopathic short stature.
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