Many short girls with delayed puberty have Turner syndrome. In Turner syndrome, one of the X chromosomes (XO instead of XX) is missing. Girls with Turner syndrome have short stature in addition to delayed puberty and various other external features.
Girls with Turner syndrome need endocrine evaluation to detect a host of problems related to the heart, kidneys, and the skeletal system. If they are detected early, there is a valuable opportunity to improve their height with growth hormone therapy.