Reply to “Practice guidelines for short stature”

I read the practice guidelines for the evaluation of short stature in the June issue of Genetics in Medicine with great interest. As a geneticist and a woman with Turner syndrome, I appreciated the number of comments in the body of the article about Turner syndrome and the importance of karyotype in the evaluation of short stature but was somewhat disappointed to see no karyotype mentioned in the diagnostic algorithm. This practice guideline would otherwise be useful not only to geneticists but also to other physicians, but I fear that quickly referring to the convenient algorithm might lead to overlooking this important step early in the workup of every child (especially girls) with growth failure.

On behalf of the Turner Syndrome Society of the United States, I applaud ACMG for addressing this important issue.