Genetic Test for Cause of Short Stature in Children

A new genetic test can help doctors diagnose the cause of short stature in children previously classified as having idiopathic short stature.

The test, called SHOX-DNA-Dx, is the first such test available. SHOX is an acronym for short stature homeobox, a gene located on the short arm of the x and y chromosomes. Deficiency of one copy of the SHOX gene is believed to be the cause of short stature in Turner syndrome. Research has shown that SHOX defects are present in the majority of individuals with Leri-Weill syndrome and in some children previously classified as having idiopathic short stature. SHOX deficiency may manifest as growth retardation, in utero or during childhood, and may also be associated with other skeletal changes.

The test requires only 1 ml of ambient whole blood and results are available within 72 hours. It was developed by Esoterix, Inc. (Austin, TX, USA) under license from Eli Lilly and Company. "Knowledge of the clinical presentation, molecular genetics, and biology of SHOX deficiency is still evolving,” said Mark Stene, Ph.D., vice president and chief scientific officer of Esoterix. "Besides providing a clinically useful testing service, we are committed to educating healthcare providers about SHOX deficiency.”



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