Klinefelter Syndrome: Should You Worry?

Occasionally we’ll see a patient with gynecomastia in our South Florida consultation room who is concerned he may have Klinefelter’s syndrome. We’d like to share some of our observations on the condition and perhaps put a few minds at ease.

First, a little background. Klinefelter syndrome was named for Dr. Harry Klinefelter who, along with a team from Massachusetts General Hospital, worked with several men in the 1940’s with similar characteristics including:

• A less than average amount of body hair
• Small testicles
• Enlarged breasts

During the following decade, researchers discovered the culprit: an XXY chromosomal configuration for these men instead of the usual XY.

Additional information emerged over the ensuing years. Doctors discovered that in addition to the more obvious physical marks of the condition, like man boobs, XXY males are more likely to be taller and heavier than might be expected given their family background. Moreover, many can have language challenges and other problems.

When it comes to all the possible symptoms of Klinefelter’s, the operative phrase is “can have.” Indeed, many physicians today have dropped the term “Klinefelter’s syndrome” altogether. The fact is, the XXY genetic configuration is a fairly common occurrence, occurring in between 1 in 500 and 1 in 1000 live births, according to the National Institutes of Health. Some men live their entire lives without realizing they have it, never actually developing the syndrome. Some men experience a few effects, and the lives of others are profoundly affected.

When we see a patient with gynecomastia who is worried about Klinefelter’s, we talk through the situation. If the man is well into adulthood and has no symptoms other than enlarged male breasts, there may not be much reason for concern. On the other hand, if the patient is younger, and if other symptoms are present, a visit to a specialist may be in order.

XXY males may face some challenges throughout their lives, from learning difficulties in childhood to ridicule in adolescence to infertility in adulthood. But there is much good news for these patients, especially when the condition is diagnosed early. Special teaching techniques and programs can help children with language and social skills. Testosterone treatment can help XXY adolescent boys gain a more masculine appearance.

Adult males can take comfort that sexuality is not normally affected by the XXY chromosomal variation. Many will be infertile due to low sperm counts, but not all. And if gynecomastia persists as they mature, male breast reduction is a viable, permanent solution.

If you’d like to learn more, we recommend an excellent piece written by Robert Bock for the National Institutes of Health. You can also check out www.aaksis.org, a website offering information and support for XXY males.

If you have enlarged male breasts due to the XXY variation, know that your condition makes no difference when it comes to male breast reduction. We have worked with many XXY men with gynecomastia, and the results we achieve are the same for these patients as for any other patient. Gynecomastia is highly treatable no matter what the root cause may be.

Come in and meet with us and we’ll gladly share all we know with you. Contact us online or call 561-367-9101.