Turner syndrome is a genetic disorder affecting girls and women. The cause of Turner syndrome is a completely or partially missing X chromosome. Turner syndrome symptoms include short stature and lack of breast development and periods. Treatment for Turner syndrome may include hormone therapy.
Turner syndrome (TS), sometimes referred to as congenital ovarian hypoplasia syndrome, is a genetic disorder. It is the most common sex chromosomal abnormality affecting girls and women. More specifically, it’s a problem with one of the two X chromosomes -- the thread-like structures inside cells that are made of DNA. We get our DNA from our parents and it is the DNA that contains the specific instructions that make each living creature unique!
Turner syndrome is a congenital condition, meaning it's something a person is born with. Each of us is born with two chromosomes. If you're female, you were born with two X chromosomes. If you're a male, you are born with one X and one Y chromosome. Turner Syndrome occurs when one of the X chromosomes is missing, either partially or completely.
Turner syndrome often causes short stature, typically noticeable by age 5. It usually doesn’t affect intelligence but can lead to developmental delays especially with calculations and memory. Heart problems are common, too. While TS can somewhat shorten life expectancy, screening for and treating known related conditions helps protect health.
Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services. Policy
Turner syndrome is a genetic disorder, but it’s usually not inherited, except in rare cases. An inherited genetic condition means that a parent (or both parents) passed down a mutated, or changed, gene. In Turner syndrome, the chromosome change happens randomly before birth.
The type of Turner syndrome (TS) a person has depends on the problem with the X chromosome:
Worldwide, about 1 in every 2,500 female babies is born with Turner syndrome. It’s the most common sex chromosomal abnormality found in women.
Turner syndrome happens when one of a female baby’s two X chromosomes is missing or incomplete. Researchers don’t yet understand why this happens.
The main symptom of Turner syndrome is short stature. Almost all females with TS:
Another symptom is not experiencing typical sexual development. Most females with TS:
Besides short stature, females with Turner syndrome often have certain physical traits:
Cardiovascular problems
People with Turner syndrome (TS) may have heart and blood vessel problems, some of which can be life-threatening. Up to 50% of people with TS have a problem with the structure of their hearts. Cardiovascular problems can include:
Bone problems
These are also common with TS. People with Turner syndrome should exercise and get enough calcium and vitamin D for healthy bones. Bone problems include:
Other medical conditions
People with Turner syndrome may also have:
People with Turner syndrome typically have normal intelligence. But they may have problems with visual motor and visual spatial skills. They can have difficulty seeing how objects relate to each other in space. For example, driving may be difficult.
People with Turner syndrome may also have trouble with:
Usually, parents notice symptoms of Turner syndrome. Sometimes they do so right away and sometimes it happens during early childhood. For example, they may spot:
A genetic test called a karyotype analysis can confirm a Turner syndrome diagnosis. This test requires a blood draw. It can determine whether one of the X chromosomes is fully or partially missing.
A complete heart evaluation is also part of diagnosis. That’s because many people with TS have heart problems.
Healthcare providers may diagnose Turner syndrome at any stage of a child’s development. Sometimes, the condition gets spotted before birth:
Other times, children receive a diagnosis soon after birth or during early childhood because of their symptoms. But some people aren’t diagnosed with Turner syndrome until they reach adulthood. These women may go through puberty and get their periods. But they often have early ovarian failure (early menopause).
Treatment for Turner syndrome depends on each child’s specific symptoms and development. A coordinated care team can provide the most comprehensive, effective care. The team will look at the whole picture and tailor a plan that works for your child.
Usually, children with Turner syndrome work with their pediatricians. They also receive evaluation and monitoring from pediatric endocrinologists. These hormone specialists can provide recommendations on how to treat hormone deficiencies.
Other pediatric specialists may include:
Parents can help the care team by keeping growth charts and tracking other symptoms. It’s also a good idea for families to get genetic counseling.
Besides care for related medical problems, Turner syndrome (TS) treatment often focuses on hormones. Treatments may include:
You can’t prevent Turner syndrome. It’s a congenital problem. It happens when a random error results in a missing or incomplete X chromosome. Parents can’t do anything to stop this error from happening.
No. The chance of having a baby with Turner syndrome doesn’t increase with the age of the mother.
The prognosis, or outlook, for women with Turner syndrome (TS) is usually good. Life expectancy for Turner syndrome might be slightly shorter, but by testing for and treating the conditions that come with TS, women with TS can expect to live essentially normal lives.
Early diagnosis is key. Pay attention to your child’s growth and milestones. Perhaps you noticed your child doesn’t seem to be growing as they should or you see unusual physical symptoms. Talk to your pediatrician.
Certain treatments, such as hormone therapy, are best started early. It’s also important to stay on top of other medical concerns, such as heart problems. Your healthcare provider can help you set up a team of specialists to manage your child’s care. Your child will likely need regular monitoring and checkups to keep tabs on their her health and any concerns.
Providers also recommend that children with Turner syndrome:
Healthcare providers consider Turner syndrome a sporadic condition, meaning it happens randomly. It’s possible to have a second child with TS, but the risk is the same as it is for any pregnancy. You don’t have an increased risk for a second child with Turner syndrome if you have an older child with the condition.
Women with Turner syndrome are usually infertile, meaning they can’t get pregnant. But some women can get pregnant using special fertilization techniques.
If your child has Turner syndrome, ask your provider:
A note from Cleveland Clinic
Turner syndrome is the most common sex chromosomal disorder affecting girls and women. TS happens when the X chromosome is completely or partially missing. It’s a sporadic problem, meaning it happens randomly. The problem often occurs in the parent’s egg or sperm during fertilization. There’s nothing you can do to prevent it. Symptoms of Turner syndrome include short stature and lack of sexual development. Girls often don’t develop breasts or get their periods. A combination of therapies can help women with TS live a good quality of life. Treatment may include hormone therapy to help with growth and development. If you have concerns about your child’s growth or notice other symptoms, talk to your healthcare provider.
Last reviewed by a Cleveland Clinic medical professional on 01/28/2021.
Learn more about our editorial process.
Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services. Policy