Treatments for Klinefelter Syndrome

What are the treatments for symptoms in Klinefelter syndrome (KS)?

It's important to remember that because symptoms can be mild, many males with KS are never diagnosed ore treated.1

The earlier in life that KS symptoms are recognized and treated, the more likely it is that the symptoms can be reduced or eliminated.2 It is especially helpful to begin treatment by early puberty. Puberty is a time of rapid physical and psychological change, and treatment can successfully limit symptoms. However, treatment can bring benefits at any age.

The type of treatment needed depends on the type of symptoms being treated.

Treating Physical Symptoms

Treatment for Low Testosterone[3]

About one-half of XXY males' chromosomes have low testosterone levels.4 These levels can be raised by taking supplemental testosterone. Testosterone treatment can:

  • Improve muscle mass
  • Deepen the voice
  • Promote growth of facial and body hair
  • Help the reproductive organs to mature
  • Build and maintain bone strength and help prevent osteoporosis in later years
  • Produce a more masculine appearance, which can also help relieve anxiety and depression
  • Increase focus and attention

There are various ways to take testosterone:

  • Injections or shots, every 2 to 3 weeks
  • Pills
  • Through the skin, also called transdermal (pronounced tranz-DERM-ul); current methods include wearing a testosterone patch or rubbing testosterone gel on the skin

Males taking testosterone treatment should work closely with an endocrinologist (pronounced en-doe-kren-AWL-oh-jist), a doctor who specializes in hormones and their functions, to ensure the best outcome from testosterone therapy. For information on how to find an endocrinologist, see the Resources and Publications section.

Is testosterone therapy right for every XXY male?

Not all males with XXY condition benefit from testosterone therapy.

For males whose testosterone level is low to normal, the benefits of taking testosterone are less clear than for when testosterone is very low. Side effects, although generally mild, can include acne, skin rashes from patches or gels, breathing problems (especially during sleep), and higher risk of an enlarged prostate gland or prostate cancer in older age. In addition, testosterone supplementation will not increase testicular size, decrease breast growth, or correct infertility.

Although the majority of boys with KS grow up to live as males, some develop atypical gender identities. For these males, supplemental testosterone may not be suitable. Gender identity should be discussed with health care specialists before starting treatment.5

Treatment for Enlarged Breasts

No approved drug treatment exists for this condition of over-developed breast tissue, termed gynecomastia. Some health care providers recommend surgery—called mastectomy (pronounced ma-STEK-tuh-mee)—to remove or reduce the breasts of XXY males.

When adult men have breasts, they are at higher risk for breast cancer than other men and need to be checked for this condition regularly. The mastectomy lowers the risk of cancer and can reduce the social stress associated with XXY males having enlarged breasts.

Because it is a surgical procedure, mastectomy carries a variety of risks. XXY males who are thinking about mastectomy should discuss all the risks and benefits with their health care provider.

Treatment for Infertility

Between 95% and 99% of XXY men are infertile because they do not produce enough sperm to fertilize an egg naturally. But, sperm are found in more than 50% of men with KS.6

Advances in assistive reproductive technology (ART) have made it possible for some men with KS to conceive. One type of ART, called testicular sperm extraction with intracytoplasmic (pronounced in-trah-sigh-toe-PLAZ-mick) sperm injection (TESE-ICSI), has shown success for XXY males. For this procedure, a surgeon removes sperm from the testes and places one sperm into an egg.

Like all ART, TESE-ICSI carries both risks and benefits. For instance, it is possible that the resulting child might have the XXY condition. In addition, the procedure is expensive and is often is not covered by health insurance plans. Importantly, there is no guarantee the procedure will work.

Recent studies suggest that collecting sperm from adolescent XXY males and freezing the sperm until later might result in more pregnancies during subsequent fertility treatments.7,8 This is because although XXY males may make some healthy sperm during puberty, this becomes more difficult as they leave adolescence and enter adulthood.

Treating Language and Learning Symptoms

Some, but not all, children with KS have language development and learning delays. They might be slow to learn to talk, read, and write, and they might have difficulty processing what they hear. But various interventions, such as speech therapy and educational assistance, can help to reduce and even eliminate these difficulties. The earlier treatment begins, the better the outcomes.

Parents might need to bring these types of problems to the teacher's attention. Because these boys can be quiet and cooperative in the classroom, teachers may not notice the need for help.

Boys and men with KS can benefit by visiting therapists who are experts in areas such as coordination, social skills, and coping. XXY males might benefit from any or all of the following:

  • Physical therapists design activities and exercises to build motor skills and strength and to improve muscle control, posture, and balance.
  • Occupational therapists help build skills needed for daily functioning, such as social and play skills, interaction and conversation skills, and job or career skills that match interests and abilities.
  • Behavioral therapists help with specific social skills, such as asking other kids to play and starting conversations. They can also teach productive ways of handling frustration, shyness, anger, and other emotions that can arise from feeling "different."
  • Mental health therapists or counselors help males with KS find ways to cope with feelings of sadness, depression, self-doubt, and low self-esteem. They can also help with substance abuse problems. These professionals can also help families deal with the emotions of having a son with KS.
  • Family therapists provide counseling to a man with KS, his spouse, partner, or family. They can help identify relationship problems and help patients develop communication skills and understand other people's needs.

Parents of XXY males have also mentioned that taking part in physical activities at low-key levels, such as karate, swimming, tennis, and golf, were helpful in improving motor skills, coordination, and confidence.

With regard to education, some boys with KS will qualify to receive state-sponsored special needs services to address their developmental and learning symptoms. But, because these symptoms may be mild, many XXY males will not be eligible for these services. Families can contact a local school district official or special education coordinator to learn more about whether XXY males can receive the following free services:

  • The Early Intervention Program for Infants and Toddlers with Disabilities is required by two national laws, the Individuals with Disabilities and Education Improvement Act (IDEIA) and the Individuals with Disabilities Education Act (IDEA). Every state operates special programs for children from birth to age 3, helping them develop in areas such as behavior, development, communication, and social play.
  • An Individualized Education Plan (IEP) for school is created and administered by a team of people, starting with parents and including teachers and school psychologists. The team works together to design an IEP with specific academic, communication, motor, learning, functional, and socialization goals, based on the child's educational needs and specific symptoms.

Treating Social and Behavioral Symptoms

Many of the professionals and methods for treating learning and language symptoms of the XXY condition are similar to or the same as the ones used to address social and behavioral symptoms.

For instance, boys with KS may need help with social skills and interacting in groups. Occupational or behavioral therapists might be able to assist with these skills. Some school districts and health centers might also offer these types of skill-building programs or classes.

In adolescence, symptoms such as lack of body hair could make XXY males uncomfortable in school or other social settings, and this discomfort can lead to depression, substance abuse, and behavioral problems or "acting out." They might also have questions about their masculinity or gender identity.9 In these instances, consulting a psychologist, counselor, or psychiatrist may be helpful.

Contrary to research results released decades ago, current research shows that XXY males are no more likely than other males to have serious psychiatric disorders or to get into trouble with the law.10

Source: NICHD (NIH)1

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Back to: « Klinefelter Syndrome

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How is Klinefelter syndrome treated?

Testosterone therapy is used to increase strength, promote muscular development, grow body hair, improve mood and self esteem, increase energy and improve concentration.

Most men who have Klinefelter syndrome are not able to father children. However, some men with an extra X chromosome have fathered healthy offspring, sometimes with the help of infertility specialists.

Most men who have Klinefelter syndrome can expect to have a normal and productive life. Early diagnosis, in conjunction with educational interventions, medical management, and strong social support will optimize each individual’s potential in adulthood.

Source: NHGRI (NIH)2

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Because symptoms of Klinefelter syndrome (KS) can sometimes be very mild, many people are never diagnosed or treated. When a diagnosis is made, treatment is based on the signs and symptoms present in each person. This may include:[1, 3][6]

  • Educational interventions - As children, many people with Klinefelter syndrome qualify for special services to help them in school. Teachers can also help by using certain methods in the classroom, such as breaking bigger tasks into small steps.
  • Therapeutic options - A variety of therapists, such as physical, speech, occupational, behavioral, mental health, and family therapists can often help reduce or eliminate some of the symptoms of Klinefelter syndrome such as poor muscle tone; speech and language problems; or low self-confidence.
  • Medical management - About half of people with KS have low testosterone levels, which may be raised by taking supplemental testosterone. Having a more normal testosterone level can help affected people develop bigger muscles, a deeper voice, and facial and body hair. Many healthcare providers recommend testosterone therapy when a boy reaches puberty. However, not all males with KS benefit from testosterone therapy. Some affected people may opt to have breast removal or reduction surgery.

The Eunice Kennedy Shriver National Institute of Child Health and Human Development's Web site offers more specific information on the treatment and management of Klinefelter syndrome. Please click on the link to access this resource. Last updated: 10/13/2015

Source: GARD (NIH)3

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Treatments for Klinefelter syndrome

There's no cure for Klinefelter syndrome, but some of the problems associated with the condition can be treated if necessary.

Possible treatments include:

  • testosterone replacement therapy
  • speech and language therapy during childhood to help with speech development
  • educational and behavioural support at school to help with any learning difficulties or behaviour problems
  • occupational therapy to help with any co-ordination problems associated with dyspraxia
  • physiotherapyto help build muscle and increase strength
  • psychological support for any mental health issues
  • fertility treatment - options include artificial insemination using donor sperm or possibly intra-cytoplasmic sperm injection (ICSI), where sperm removed during a small operation are used to fertilise an egg in a laboratory
  • breast reduction surgery to remove excess breast tissue

Source: NHS Choices UK4

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Testosterone replacement therapy

TRT involves taking medication containing testosterone. It can be taken in the form of gels or tablets in teenagers, or given as gel or injections in adult men.

TRT may be considered once puberty begins and may help with the development of a deep voice, facial and body hair, an increase in muscle mass, reduction in body fat, and improvement in energy. You should see a specialist in children's hormones (a paediatric endocrinologist) at this time.

Long-term treatment during adulthood may also help with several other problems associated with Klinefelter syndrome - including osteoporosis, low mood, reduced sex drive, low self-esteem and low energy levels - although it can't reverse infertility.

Source: NHS Choices UK5

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  1. Source: NICHD (NIH): health/ topics/ klinefelter/ conditioninfo/ Pages/ treatments.aspx
  2. Source: NHGRI (NIH): 19519068/ learning-about-klinefelter-syndrome/ 
  3. Source: GARD (NIH): diseases/ 8705/ klinefelter-syndrome
  4. Source: NHS Choices UK: conditions/ klinefelters-syndrome/ 
  5. ibid.

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Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.