Turner syndrome happens when a baby assigned female at birth is born with one missing or partial X chromosome. It causes a variety of symptoms and features, like short stature and issues with ovary function. There’s no cure, but treatment involves managing hormone levels and other health conditions.
Turner syndrome (TS) is a congenital condition (present from birth) that only affects people assigned female at birth (AFAB). It happens when one of two of the X chromosomes is missing, either partially or completely.
Turner syndrome leads to a variety of features and symptoms and affects each person differently. But short stature and reduced ovary functioning (primary ovarian insufficiency) are the two most common features.
Turner syndrome affects 1 in 2,000 to 1 in 2,500 babies assigned female at birth. It’s the most common sex chromosome-related condition that affects babies AFAB.
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Humans typically have 23 pairs of chromosomes (46 total). Chromosomes divide into 22 numbered pairs (autosomes) and one pair of sex chromosomes. You receive one chromosome from each biological parent to make a pair.
The 23rd pair normally consists of one X and one Y chromosome for people assigned male at birth (AMAB) and two X chromosomes for people AFAB. Turner syndrome happens when one of a baby’s two X chromosomes is missing or incomplete. Researchers don’t yet understand why this happens.
There are different types of Turner syndrome (TS) based on how one of the X chromosomes is affected:
Turner syndrome presents in many ways. It can cause several different characteristics — or features — as well as certain health conditions, which can vary in severity. Depending on the type of TS, signs of the syndrome may be apparent:
As TS affects everyone differently, you should talk to your healthcare provider about what symptoms and features to expect or look out for based on your or your child’s unique genetic makeup.
The main feature of Turner syndrome is short stature. Almost all people with TS:
Another common feature is differences in sexual development. Most people with TS:
Besides short stature, people with Turner syndrome often have certain physical traits, which may include:
People with Turner syndrome are at an increased risk of also having certain health conditions. But not everyone with TS will develop them.
People with Turner syndrome may have heart and blood vessel issues, some of which can be life-threatening. Up to 50% of people with TS are born with a congenital heart condition that affects the structure of their hearts. Cardiovascular problems can include:
Bone conditions are also common with TS and may include:
TS increases your risk of certain autoimmune conditions, including:
Hearing and ear conditions that are common in people with TS include:
The most common vision and eye conditions include:
People with Turner syndrome may also have:
Healthcare providers may diagnose Turner syndrome at any stage of a child’s development after birth. Sometimes, they can detect the condition before birth with the following tests:
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 people AFAB may go through puberty and get their periods. But they often have primary ovarian insufficiency (early menopause).
After birth, a genetic test with karyotype analysis is the test that confirms a Turner syndrome diagnosis. This test requires a blood draw.
There’s no cure for Turner syndrome. But certain medications and therapies can help manage its symptoms.
Besides care for related medical problems (like heart conditions), Turner syndrome treatment often focuses on hormones. Treatments may include:
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 primarily see 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.
There’s nothing you can do to prevent Turner syndrome. It happens randomly at conception. Biological parents can’t do anything to stop it from happening and it’s not their fault.
It’s important to remember that no two people with Turner syndrome are affected in the same way. It’s impossible to predict how it’ll affect your child. The best way you can prepare is to talk to healthcare providers who specialize in Turner syndrome.
The life expectancy for people with Turner syndrome might be slightly shorter. But by testing for and treating the health conditions that can come with TS, people with TS can expect to have a typical lifespan.
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 you expect, or you see unusual physical symptoms. Talk to their pediatrician about any concerns.
Certain treatments, such as hormone therapy, are most effective if you start them early. It’s also important to stay on top of other medical concerns, such as heart problems. Your child will likely need regular monitoring and checkups to keep tabs on their health and any concerns.
Providers also recommend that children with Turner syndrome:
If your child has Turner syndrome, ask your provider:
A note from Cleveland Clinic
Learning that your child has a genetic condition can feel overwhelming. Turner syndrome isn’t preventable, but it’s manageable. Know that you’re not alone — many resources are available to help you and your family. It’s important that you speak with a healthcare provider who’s very familiar with Turner syndrome so you can learn more about what to expect and how to care for your child.
Last reviewed by a Cleveland Clinic medical professional on 10/10/2023.
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