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Klinefelter syndrome

• Overview
• Symptoms
• Treatment

Alternative Names:

47 X-X-Y syndrome

Treatment:

Testosterone therapy may be prescribed. This can help:

• Increase strength
• Improve appearance of muscles
• Grow body hair
• Improve mood and self esteem
• Increase energy and sex drive
• Improve concentration

Most men with this syndrome are not able to father children. However, there have been some men who have. An infertility specialist may be able to help.

Support Groups:

The American Association for Klinefelter Syndrome Information and Support (AAKSIS) - www.aaksis.org

Expectations (prognosis):

Most patients have a normal, productive life.

Complications:

The syndrome is associated with an increased risk of:

• Breast cancer
• Extragonadal germ cell tumor (a rare tumor)
• Lung disease
• Varicose veins
• Osteoporosis
• Autoimmune disorders such as lupus, rheumatoid arthritis, and Sjogren syndrome
• Learning disabilities, despite normal or high IQ
• Dyslexia
• Attention deficient hyperactivity disorder
• Depression

Taurodontism, which is when the teeth have enlarged pulp and a thinning surface, is very common in Klinefelter syndrome. It can be diagnosed by dental x-rays.

Calling your health care provider:

Call for an appointment with your health care provider if a boy does not develop secondary sexual characteristics at puberty. A genetics counselor can help explain abnormal chromosome findings. A consultation with an endocrinologist and infertility specialist may also be helpful.

• Review Date: 12/11/2006
• Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.

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