The diagnosis of Turner syndrome can be made at almost any age, from before birth (prenatally) to well into adulthood. Doctors may suspect a diagnosis Turner syndrome because of specific symptoms. At birth, a webbed neck, congenital heart defects or swollen hands or feet may lead to suspicion of the disorder. During childhood, slow growth and other physical changes may lead to a diagnosis. Teen-aged girls who are small for their age, have nipples that are widely spaced apart, or fail to undergo puberty or get their period may be tested for Turner syndrome.
To test for Turner syndrome, doctors will take a blood sample and use this sample to examine a person’s chromosome makeup. This is called karyotyping. Karyotyping allows a doctor to examine the size, shape and number of a person’s chromosomes. This test will detect a missing or altered X chromosome.
Sometimes Turner syndrome is diagnosed before birth. This usually happens incidentally because doctors were testing a fetus for unrelated reasons. Sometimes, a routine fetal ultrasound called a sonogram may show abnormalities that are associated with Turner syndrome like kidney abnormalities or congenital heart defects.
If you believe that you or your child has Turner syndrome, you can request or seek out a referral to a genetics clinic that may be more familiar with these disorders. There are Turner syndrome clinics in the United States that specialist in this disorder. The Turner Syndrome Society and the Turner Syndrome Foundation have information on these clinics. The Genetics and Rare Diseases Information Center provides information on how to find healthcare professionals with experience in specific conditions, specialty treatment centers, genetics clinics, and researchers who are studying a specific condition.
Usually, Turner syndrome is not inherited. Even so, if you suspect that someone in your family has Turner syndrome, you should also talk to a genetic counselor in your area.
