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Treatments and drugs
By Mayo Clinic staffAlthough there's no way to repair the sex chromosome changes due to Klinefelter syndrome, treatments can help minimize its effects.
- Testosterone therapy. Males with Klinefelter syndrome don't produce enough of the male hormone testosterone, and this can have lifelong effects. Starting at the time of the usual onset of puberty, testosterone therapy can help treat or prevent a number of problems caused by the disorder. Testosterone may be given as injections or with a gel or patch on the skin. Testosterone therapy will allow the body changes that normally occur at puberty, such as development of facial and body hair, penis enlargement, and increase in muscle mass. It will also decrease the risk of thinning bones (osteoporosis). It will not result in testicle enlargement or improve infertility.
- Breast tissue removal. Some males develop breasts (gynecomastia) because of the hormonal effects of Klinefelter syndrome. This can be a serious emotional challenge for a teenage boy or a young man. But, treatment can help. Excess breast tissue can be removed by a plastic surgeon, leaving a normal-looking male chest. Testosterone replacement also can help reduce growth of breast tissue.
- Coping with infertility. Nearly all men with Klinefelter syndrome are unable to father children (infertile). For most couples interested in having a child, this can be discouraging. But a number of alternatives exist, including adoption and artificial insemination with donor sperm. One option that may benefit some men with Klinefelter syndrome is a procedure in which sperm is removed from the testicle with a biopsy needle, and injected directly into the female egg. This procedure, known as testicular sperm extraction (TESE) and intracytoplasmic sperm injection (ICSI), is costly and not widely available. But since its introduction in 1996, some men with Klinefelter syndrome have fathered children.
- Psychological counseling. Having Klinefelter can be a challenge, especially during puberty and young adulthood. For men with the disorder, coping with infertility can be difficult. Meeting with a counselor or psychologist to work through these emotional issues can help.
- Educational support. Some boys with Klinefelter syndrome have trouble learning and may benefit from extra assistance. Talk to your child's teacher, school counselor or school nurse about what kind of support might help. Not all boys with Klinefelter syndrome have learning difficulties, but when they do, it's important to monitor their development and seek help.
- Physical and speech therapy. These treatments can help boys with Klinefelter syndrome overcome signs and symptoms such as poor muscle tone and speech and language problems.
References
- Klinefelter syndrome. National Institutes of Health. http://www.nichd.nih.gov/health/topics/klinefelter_syndrome.cfm. Accessed Feb. 19, 2008.
- Klinefelter syndrome. Madison's Foundation. http://www.madisonsfoundation.org/index.php/component/option,com_mpower/diseaseID,195/. Accessed Feb. 19, 2008.
- Lanfranko F, et al. Klinefelter's syndrome. The Lancet. 2004;364(9430):273-283
- Bojesen A, et al. Klinefelter syndrome in clinical practice. Nature Clinical Practice Urology. 2007;4(4):192-193.
- Klinefelter syndrome. U.S. National Library of Medicine. http://ghr.nlm.nih.gov/condition=klinefeltersyndrome. Accessed Feb. 26, 2008.
- Klinefelter (XXY) syndrome. California Department of Developmental Services. http://www.ddhealthinfo.org/coursebuilder/?id=25. Accessed Feb. 19, 2008.
