There is considerable imprecision in the diagnosis of GH deficiency (GHD) in the short child without evident organic etiology. This is illustrated by the high variability in the prevalence of GHD that has been estimated to be from 20 per million in the UK to 287 per million of total population in the United States (1). There are four general causes for the apparent difficulty in assessing GH secretion in childhood: imprecise use of clinical criteria, insufficient use of hypothalamic-pituitary imaging technology, inadequate use of optimal GH testing paradigms, and inappropriate interpretation of laboratory data. This commentary will focus on the laboratory diagnosis of GHD.

It is commonly recommended that GH stimulation tests should be reserved for children with low serum IGF-I and IGFBP-3 and poor growth. While subnormal serum levels of both serum IGF-I and IGFBP-3 may be highly predictive of a subnormal response to a provocative GH test in prepubertal children (2), two recent large retrospective studies have seriously challenged this proposed diagnostic utility (3, 4). Mauras et al. (5) report that normal children had significantly higher mean concentrations of serum IGF-I, IGFBP-3, and ALS than the short stature group, and suggest that these determinations may have greater diagnostic utility in the evaluation of the short child than GH testing. However, at least one of these children had extreme short stature (−7.4 height SDS) that suggests a diagnosis of classical GH-deficiency, making group comparisons invalid since this subject would be expected to have low GH-dependent peptide concentrations.

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