Because the signs of Turner syndrome are usually obvious, most girls with the condition are diagnosed shortly after birth or in early childhood. However, some women with Turner Syndrome look normal except that they are short in height. In addition, girls with more severe forms of Turner Syndrome may be diagnosed early, whereas others may not be diagnosed until adolescence when they don’t start their menstrual periods.

The test used to determine Turner syndrome is called a karyotype. A karyotype is a blood test that produces an image of your chromosomes. That way, your doctor can identify whether one of your sex chromosomes is missing or partially missing.

It is common to find that the condition is unidentified for many years before parents bring the kids to an endocrinologist.