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You’ve learned your child has a genetic condition that will affect their growth, health and development. And now you wonder about their future. Will they be OK?

Turner syndrome (TS) can cause short height (stature), clumsiness, memory issues, trouble understanding social cues, and more. Girls and children assigned female at birth (AFAB) with TS often don’t start puberty and will need to take hormones to help with this. And it can be linked to many chronic (ongoing) health conditions affecting the heart, bones, ears, eyes and immune system. It’s a lot to take in.

Cleveland Clinic Children’s expert healthcare providers have answers. And we understand the stress that comes with this kind of diagnosis. That’s why you and your child will get highly personalized care and support, so together, you can confidently navigate their life with Turner syndrome.

Why Choose Cleveland Clinic Children’s for Turner Syndrome Care?

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Skilled collaborative providers:

Our team-based approach to care means your child will see providers from many different specialties — all chosen to meet each of your child’s unique needs. This care team works together to confirm a diagnosis and plan your child’s personalized care. Meet our team.

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Patient-centered care:

If your child is diagnosed with Turner syndrome, we offer the support and guidance your child and your family need. Our special programs focus on helping your child lead a healthy, independent life.

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Specialized knowledge:

TS is a rare genetic condition, but it’s not rare to our healthcare providers. Our pediatric endocrinology team has clinical experience in diagnosing, treating and managing complex conditions like TS.

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Innovation and research:

Your child may have the opportunity to get new, research-based treatments for Turner syndrome. Our providers may recommend clinical trials that may be helpful for your child.

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Virtual visits:

Not all appointments need to be in person. You can schedule some follow-ups for your child as virtual visits. Using a smartphone, tablet or computer (and an internet connection), you can connect one-on-one with providers from the comfort of your home.

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National recognition:

U.S. News & World Report consistently ranks Cleveland Clinic Children’s a top hospital in the nation. Newsweek has also named Cleveland Clinic a top hospital in the world.

Turner Syndrome Diagnosis at Cleveland Clinic Children’s

Also known as congenital ovarian hypoplasia syndrome, Turner syndrome is a genetic condition that happens when one of the two X chromosomes of babies assigned female at birth is incomplete or missing.

It causes kids to be noticeably shorter in height than their peers by age 5 (and usually no more than 4’8” or 1.4 meters in adulthood). And while it typically doesn’t affect intelligence, TS often causes differences in learning, particularly with memory and calculations like math or spatial relationships.  

Heart problems are common. As are immune conditions, higher risks of weak bones and fractures and problems with sexual development, learning, behavior, hearing and vision.

There are several different kinds of Turner syndrome, which happen based on how the X chromosomes are affected. These are:

  • Monosomy X: Cells have one X chromosome instead of two.
  • Mosaic-Turner syndrome (mosaicism): Some cells have two X chromosomes. Others have one.
  • Inherited Turner syndrome: Rarely, TS can be passed on from one or both parents. Usually, part of an X chromosome is missing.

What to expect during prenatal diagnosis

Turner syndrome is often diagnosed before birth, but other times we might not find it until infancy or early childhood.

Your provider may see signs of it during a routine ultrasound in pregnancy. Or it might be flagged in tests like:

A karyotype analysis on the chromosomes in tissue or fluid collected from these tests can help us confirm a Turner syndrome diagnosis.

What to expect during diagnosis after birth

Turner syndrome looks different in every child. Your child may have many TS symptoms or just a few. You may be the first to notice signs that your child may have Turner syndrome when they’re a baby or young child. The doctors will order some tests and bloodwork to confirm the diagnosis and make sure your baby is healthy.

Children with TS may have delayed growth. Their hands and feet may swell. They might have, droopy eyelids, a low hairline on the back of their head and skin webbing on their neck. They also may not develop breasts or have menstrual periods, and may have early ovarian failure (early menopause).

That’s why your provider will sit down and talk with you about what’s going on. Sharing your child’s story is an important part of the diagnosis process. They may ask:

  • What symptoms have you noticed?
  • When did you notice them?
  • How are they affecting your child’s life?
  • Have they been diagnosed with any other health conditions?

If we think your child may have TS, we may do a physical exam and a blood test to look for signs of this condition and to confirm a diagnosis.

Meet Our Turner Syndrome Team

Your child’s pediatrician will most likely lead their care team, which could include other providers based on their needs, symptoms and diagnosis. These could include:

Your child’s care team works together (and with you) to build your child’s treatment plan based on many different factors.


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Turner Syndrome Treatment at Cleveland Clinic Children’s

Because TS shows up differently in each child and impacts their growth, sexual development and other body systems, they’ll have personalized treatment based on their age, symptoms and goals. Treatment could include:

Hormone therapy

Turner syndrome can delay growth. We recommend your child start daily hormone injections (shots) to help them develop and grow. Your child’s care team will help you learn how to give your child injections and answer your questions about human growth hormone (HGH).  

As your child gets older, we may recommend estrogen hormone replacement therapy (HRT) to allow your child’s body to go through puberty. They may also need to take another hormone called progesterone to help them start having menstrual periods.

Heart care

Up to 50% of people with TS have a problem with their heart. We recommend testing their heart to see if it’s developing like it should and working well. Our pediatric cardiologists help you and your child understand how TS affects their heart and manage ongoing symptoms, such as high blood pressure.

Hearing and speech support

Many children with TS have hearing loss and frequent ear infections. Our pediatric audiologists and otolaryngologists (ENT) help your child hear better with hearing aids and the placement of ear tubes, if needed. We can also work with them on speech-language therapy if they need that, too.

Vision care

Children with Turner syndrome often have nearsightedness. They also can have farsightedness or red-green color blindness, but not as frequently. Regular vision screenings can pinpoint problems. Glasses, contacts or eye surgery can help.

Psychological therapy

The physical effects of Turner syndrome may make your child feel depressed or anxious. Our pediatric psychologists help your child work through their emotions with things like cognitive-behavioral therapy.

Lifelong care

Turner syndrome is a chronic condition. Their pediatric care team will work with them to help them adjust to their diagnosis and learn how to manage it each day. And when they reach adolescence, we’ll start to transition them from their pediatric care team to providers who specialize in adult Turner syndrome treatment.

Taking the Next Step

There’s more to Turner syndrome care than a correct diagnosis. Your child and your family deserve ongoing support as they go through treatment. At Cleveland Clinic Children’s, you can rely on our knowledgeable and compassionate providers. They’ll answer your questions, listen to your concerns and give your child the expert, personalized care they need to move forward with an active life.

Getting an appointment with Cleveland Clinic Children’s Turner syndrome experts is easy. We’ll help your child get care.


Getting an appointment with Cleveland Clinic Children’s Turner syndrome experts is easy. We’ll help your child get care.

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