Diagnosis of growth hormone deficiency in childhood

The diagnosis of growth hormone deficiency (GHD) in childhood is challenging, in large part because of the lack of a true gold standard and the relatively poor performance of available diagnostic testing. This review discusses the recent literature on this topic.

Auxology and clinical judgment remain the foundation for the diagnosis of GHD. Provocative growth hormone testing is poorly reproducible, dependent on factors such as body composition and pubertal status, and further limited by significant variability among commercially available growth hormone assays. Measurement of insulin-like growth factor I and insulin-like growth factor-binding protein 3 is not diagnostically useful in isolation but is helpful in combination with other diagnostic measures. Neuroimaging is also useful to inform diagnosis, as pituitary abnormalities suggest a higher likelihood of GHD persisting into adulthood. Although genetic testing is not routinely performed in the diagnosis of GHD at the present time, multiple recent reports raise the possibility that it may play a more important role in diagnosing GHD in the future.

Beyond physicians' integrated assessment of auxology, clinical presentation, and bone age, current tools to diagnose GHD are suboptimal. Recent literature emphasizes the need to reappraise our current practice and to consider new tools for diagnosis.