Klinefelter Syndrome: Causes, Symptoms and Treatment

Cause of Klinefelter syndrome

Humans typically have 46 chromosomes in 23 pairs. The 46th pair of chromosomes is called the sex chromosome pair. In men, there is an X and a Y chromosome, written for short: 46,XY. If a man has the congenital Klinefelter syndrome, he has at least one other X chromosome, in short: 47,XXY. 48,XXXY, 49,XXXXY or additional Y chromosomes are also possible.

Klinefelter syndrome: symptoms

Experts suspect that there could be 80,000 men with Klinefelter syndrome in Germany. Since currently only about 15 percent of all Klinefelter sufferers are diagnosed, the number of unreported cases is high. Most often, the syndrome is discovered when a man has his infertility tested. The main problem with Klinefelter syndrome is the lack of testosterone , which can have some long-term effects.

• Underdeveloped testicles : In Klinefelter syndrome, the testicles do not fully develop. The testicles are the organ that produces the most testosterone.
• Low testosterone : The testicles are underdeveloped and produce little testosterone. This reduced “hormonal activity” of the testicles is also called “hypogonadism”.
• Infertility : Klinefelter syndrome mostly renders men infertile. There may be a low sperm count, but a lack of sexual desire or erectile dysfunction are also possible.
• Weak puberty : Due to the lack of testosterone, puberty can be weak or even absent. Voice breaks may be late and people may have little body hair.
• Striking growth : Men with Klinefelter syndrome can be very tall, with long arms and legs. It is possible for breasts to develop and postural and back problems to develop.
• There may also be symptoms such as tiredness, listlessness, anemia and muscle weakness.
• Long -term effects : Due to the lack of testosterone, the affected men have a higher risk of developing osteoporosis, diabetes, a spinal curvature or thrombosis, for example. 

Klinefelter syndrome: treatment

Klinefelter syndrome cannot be cured because it results from an abnormal number of chromosomes. However, it can be treated with hormone therapy. Since the body does not produce enough testosterone itself, it has to be supplied from the outside. Testosterone breaks down in the gastrointestinal tract, which is why there are no testosterone pills. There are these options:    

• Testosterone injections : The testosterone from the injections can be stored in the body, so the doctor only gives the testosterone injection every 1 to 3 months.
• Testosterone gels : Testosterone gel must be applied to the skin daily, for example on the upper arms. As a general rule, the gel must be kept away from children and pregnant women – a discussion with the doctor about handling the gel is therefore essential.
• Testosterone patches : Testosterone patches are usually changed every two days. There are plasters that are glued directly to the testicles. The patient can stick others on their stomach, for example.

Whether the testosterone therapy is effective must be checked regularly by taking a blood sample. Not only the testosterone levels, but also other hormone levels and the red blood cells are checked. The formation of red blood cells is promoted by testosterone. Bone density can be measured every two or three years to detect possible osteoporosis.

Sperm production is usually restricted in Klinefelter patients. Testosterone therapy can further reduce sperm production in the testicles. If Klinefelter syndrome has been diagnosed in a man and the desire to have children is present, it is advisable to speak to a doctor about it. He may be able to take sperm and use it for artificial insemination if conception is not possible naturally.