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Klinefelter Syndrome in Children

It’s natural to wonder what your child’s life will be like. But when they’re born with a rare genetic condition, those wonders can quickly become worries.

What kinds of health problems will they face? Can they attend school? What will their social life be like? If your child has a serious condition, like Klinefelter syndrome (XXY syndrome), one thing is certain — you want to support them and get them the best care possible.

Cleveland Clinic Children’s compassionate experts specialize in diagnosing, treating and managing Klinefelter syndrome, a rare, chronic, congenital (born with it) condition that affects people assigned male at birth (AMAB). But when your child gets skilled, personalized care, they have an excellent chance to lead a happy, independent life.

Why Choose Us to Care for Klinefelter Syndrome in Children?

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Industry leaders:

Cleveland Clinic Children's is a member of the Association of X and Y Chromosome Variations (AXYS). Participation is limited to the nation’s leading Klinefelter syndrome experts. Members regularly share knowledge and best practices, giving your child access to the best available therapies.

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Comprehensive treatment:

Cleveland Clinic Children’s provides all the tests, treatment and support your child needs. It’s part of our eXtraordinary Kids Care approach to caring for children with XY chromosome variations — a type of genetic disorder that includes Klinefelter syndrome.

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Innovation and research:

Cleveland Clinic Children’s is advancing Klinefelter syndrome care as part of the national research group AXYS Clinic and Research Consortium. These efforts are increasing knowledge and awareness of the condition and finding the best ways to treat it. This means your child will get the most appropriate tests and treatment.

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Specialized knowledge:

Klinefelter syndrome is challenging to diagnose. Working with an experienced team like ours can often mean getting your child a diagnosis in the syndrome’s early stages. This helps your child start treatments earlier, potentially lessening the impact of Klinefelter on your family’s daily life. Meet our team.

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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.

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Virtual visits:

Sometimes it’s hard to get kids out of the house to appointments. At Cleveland Clinic Children's, we offer virtual visits so you and your child can talk with providers one-on-one from home — using your internet connection and a smartphone, tablet or computer.

Diagnosing Klinefelter Syndrome at Cleveland Clinic Children's

There are several ways we can diagnose Klinefelter syndrome. It may show up during a prenatal test like amniocentesis or chorionic villus sampling from the placenta. And noninvasive prenatal testing (NIPT) can help providers look for extra chromosomes in these samples.

More often, Klinefelter Syndrome is something that’s diagnosed when your child shows signs of abnormal growth during childhood, puberty or even during their teenage years or adulthood. Klinefelter syndrome’s physical and intellectual symptoms can range from mild to severe. Your child might have many signs of the condition. Or they might have only a few symptoms — or none that are obvious.

Some people who have no noticeable symptoms might not even know they have Klinefelter syndrome until they reach adulthood and find out they have low testosterone or fertility problems.

Testing for Klinefelter syndrome in children, teens and adults is done through a blood test called a karyotype test. This test lets us see if your child has an extra X chromosome. Most people have 23 pairs of chromosomes or 46 total. People with Klinefelter syndrome have 47 — an extra X chromosome. If your child’s body has a mixture of different cell chromosomes, this is called mosaicism.

Meet Our Klinefelter Syndrome Team

 At Cleveland Clinic Children’s, your child will have a team of healthcare providers from different specialties. All these experts know how to identify Klinefelter Syndrome and care for kids with it. And they can support your family along the way, too. Your child’s care team could include:

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Treating Klinefelter Syndrome at Cleveland Clinic Children’s

If we confirm your child has Klinefelter syndrome, we’ll work with you to design a personalized treatment plan that considers your child’s needs, their health and their specific symptoms.

Hormone replacement

If your child has Klinefelter syndrome, they may have low levels of the hormone testosterone. Often, when they’re teenagers, their testicles can’t make sperm or testosterone. This means your child might not start puberty or start and then stop again. It can cause growth and development issues, infertility and mental and emotional challenges.

If this is the case for your child, we’ll likely recommend hormone replacement therapy to boost their testosterone levels.

Whole-person care

We take a holistic (whole-person) approach to treatment. So, we may recommend other treatments based on your child’s needs. These could include learning assessments, speech-language therapy, physical and occupational therapy and emotional and behavioral health treatment.

If needed, your whole family can also get counseling so you can talk about how you’re feeling and better learn how to manage all that comes with your child’s Klinefelter syndrome diagnosis.

We’ll also watch for and treat other conditions that may affect your child with Klinefelter syndrome. These include high blood pressure, Type 1 or Type 2 diabetes, involuntary movements (tremors), weak bones (osteoporosis), blood clots and certain cancers.

Surgery

If your child has Klinefelter syndrome, they can develop extra breast tissue that doesn’t go away as they grow. If it causes problems or bothers your child, your providers might decide to do reduction surgery to remove the excess tissue. Your child’s providers will talk with you and your child about what to expect before, during and after surgery. Typically, people wait until they’re adults for this procedure.

Taking the Next Step

Learning that you child may have Klinefelter syndrome can have an impact on your whole family. You might be feeling confused, worried and wondering what’s next. We’ll take time to go over what this diagnosis means, what you can expect from treatment and how your whole family can be involved in managing daily life. For us, it’s more than just treatment for your child. We’ll build a lasting relationship with your family and give you the support you need every step of the way.

Getting an appointment with Cleveland Clinic Children’s Klinefelter syndrome experts is easy. We’re here to help your child get care.

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Getting an appointment with Cleveland Clinic Children’s Klinefelter syndrome experts is easy. We’re here to help your child get care.


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