Klinefelter’s Syndrome Condemns Men to Infertility

Klinefelter’s syndrome is a genetic abnormality which causes male infertility already in puberty.

Klinefelter’s syndrome causes male infertility. (Photoxpress)

What’s Klinefelter’s syndrome?

Klinefelter’s syndrome means that men have karyotype XXY instead of the usual male karyotype XY. Owing to the chromosome Y, the fetus develops into a male. Klinefelter’s syndrome is a rather common chromosome disorder that affects 1 in 500 male live births.

What are the features of men with Klinefelter’s syndrome?

Men born with Klinefelter’s syndrome have low levels of testosterone and higher levels of estrogen than usual in their puberty. The result is the development of gynaecomastia, affecting a third of adult men, which is a somewhat higher share than for men with karyotype XY. Such boys have a tall and slender statue. As teenagers, they have a less developed body and scant body hairs. They typically have less muscle strength and mass, and small testicles that are not capable of producing sperm. A recognisable sign is also a high-pitched voice and a youthful look. More extreme manifestation of symptoms is also an increased risk of breast cancer. Men suffering from Klinefelter’s syndrome are 20 times more likely to develop breast cancer than men with karyotype XY. Erectile dysfunction is also more common. The risk of osteoporosis is similar to women. The same goes for fat distribution, which is more typical of women. Owing to an indistinctive physical appearance (poor sexual development because of decreased production of androgen), boys commonly experience depression and the feelings of not fitting because of their indistinctive physical appearance.

Treatment for Klinefelter’s syndrome

Despite external recognizable signs, the diagnosis is made in a different way – by testing karyotype.  The diagnosis is confirmed if the additional chromosome X is present in most cells. Treatment has to be provided as soon as possible and includes: the replacement of testosterone, physiotherapy, speech therapy and disease education. Replacement hormone therapy with testosterone has no influence on fertility, testicle size or breast reduction.  However, it affects muscle mass, hair growth and libido. Treatment is important for boys to grow into adult men who live a normal sex and social life. In most cases, the symptoms of Klinefelter’s syndrome appear in puberty when a normal sexual development is delayed. In many cases, therefore, boys are not diagnosed with the syndrome at all or the diagnosis is not made until they are adult.

Read more about male infertility in our Lover's Guide.