Genetic Testing of the Short Child

Increased understanding of the pathogenetics of short stature and readily available genetic testing have changed the face of diagnostic endocrinology. It remains essential, however, that each short child undergoes detailed clinical, auxological and traditional endocrine assessment to determine which gene (or genes) to study. Diagnostic algorithms and clinical scoring systems are reviewed and the implications of genetic testing for determination of therapy type are discussed. At present, results from genetic testing do not reliably indicate which growth-promoting therapy would be most effective. However, pharmacogenetic testing may play a future role in the individualisation of therapy.