Turner syndrome (TS) is a rare chromosomal condition caused by complete or partial absence of one of the two X chromosomes. It is a rare condition, affecting approximately 1 out of every 2,500 female newborns.
Turner syndrome occurs when all or part of one of the X chromosomes is lost before or soon after conception. The physical signs of TS can vary widely from patient to patient, so diagnosis sometimes occurs later in life. The most common features of TS are short stature and ovaries that do not work properly. Other physical features include eye problems and curvature of the spine (scoliosis).
This missing or incomplete chromosome prevents the female body from maturing naturally. Turner syndrome can cause a variety of medical and developmental problems, including short stature, failure to start puberty, infertility, and kidney and heart defects. There is no cure for TS, but there are medical interventions to help reduce symptoms, such as:
Children’s Health℠ specializes in diagnosing and treating conditions of the reproductive organs and girls’ health. Our team of health care professionals provides compassionate, sensitive care for girls from birth to age 21. Our staff is specially trained to meet the medical and emotional needs of girls and young women, and provides the most comprehensive range of diagnostic and treatment procedures from routine exams through surgery and/or therapy.
Before birth, symptoms of Turner syndrome may appear on a prenatal ultrasound. They can include:
At birth, or during infancy and early childhood, symptoms may include:
Symptoms that appear in older girls, teens, and young women may include:
Prenatal diagnosis of Turner syndrome is sometimes possible. If your doctor notices certain features in your unborn daughter – like a large collection of fluid on the back of the neck or heart or kidney abnormalities – he or she will take a sample of your blood to evaluate the baby’s DNA present there (karyotype).
To confirm the diagnosis, your doctor may perform:
If your daughter is not diagnosed in the womb, but doctors suspect Turner syndrome at birth, during infancy, or at any time during childhood, they will order a blood test called a karyotype, which shows the number and visual appearance of the chromosomes.
Some cases of Turner syndrome are not diagnosed until late childhood or the early teen years when girls aren’t showing typical signs of puberty and growth.
If your daughter is diagnosed with Turner syndrome, her doctor may prescribe:
Your daughter should have regular checkups to manage common Turner syndrome complications like hearing loss, high blood pressure, eye problems, diabetes, thyroid and musculoskeletal conditions.
Your daughter will also be referred to a cardiologist, who will monitor her heart with regular ultrasounds.
To maintain her optimal health, it is important that your daughter develops healthy lifestyle habits, including a nutritious diet and regular exercise.
Some women with Turner syndrome can eventually become pregnant with fertility treatment using donated eggs or embryos, but these pregnancies are usually considered high-risk.
No. Girls and women with Turner syndrome can lead full and productive lives with proper medical monitoring of any associated conditions, like heart valve abnormalities.
Turner syndrome is a chromosomal condition that occurs randomly in approximately 1 out of every 2,500 live female births.
Spontaneous pregnancy is rare in women with Turner syndrome, but there are available options for some women, such as in-vitro fertilization. Some girls and women are ‘mosaic’ and do not manifest as many of the typical features of the syndrome. In these instances, the chances of spontaneous pregnancy can be higher.
The Turner Syndrome Society of the United States provides educational materials, resources for families, and information about support groups. Contact this organization, or ask your doctor about local peer and parent support groups.