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Diseases

Genetic and Rare Diseases Information Center (GARD)

Klinefelter syndrome


Other Names for this Disease
  • Klinefelter's syndrome
  • XXY syndrome
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My son has Klinefelter syndrome. I am aware that he may need testosterone replacement therapy (TRT) when he reaches puberty. For how long is TRT usually done?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

How might Klinefelter syndrome be treated?

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][2][3]
  • 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

How long is testosterone replacement therapy typically used in people with Klinefelter syndrome?

About half of people with a 47, XXY chromosome finding have low testosterone levels, which can typically be raised by taking supplemental testosterone. However, not all males with a 47, XXY chromosome finding benefit from testosterone therapy. Furthermore, although the majority of people with a 47, XXY chromosome finding and/or Klinefelter syndrome grow up to identify as males, some develop atypical gender identities. For these people, supplemental testosterone may not be appropriate. Gender identity should be discussed with health care specialists before starting treatment.

In most cases, testosterone replacement therapy (sometimes referred to as androgen therapy), is started at puberty (around age 12 for males). The dose is gradually increased until it is enough to maintain age-appropriate serum concentrations of testosterone, estradiol, follicle-stimulating hormone (FSH), and luteinizing hormone (LH). Regular testosterone injections can promote strength and facial hair growth; build a more muscular body type; increase sexual desire; enlarge the testes; improve mood, self-image, and behavior; and protect against early osteoporosis.[3]

Limited information about the treatment of adults with Klinefelter syndrome is available; however, research has shown that continued testosterone injections, even if begun in adulthood, can be beneficial to those seeking treatment and may continue to help with hypogonadism, low libido (sex drive), and psychosocial issues.[3] People with Klinefelter syndrome should consult their physicians regarding their personal course of treatment and to discuss the risks and benefits of testosterone replacement therapy.
Last updated: 10/13/2015

References
Other Names for this Disease
  • Klinefelter's syndrome
  • XXY syndrome
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.