Klinefelter syndrome
Alternative Names
Klinefelter syndrome, 47 X-X-Y syndromeWhat is Klinefelter syndrome
Klinefelter syndrome is a chromosomal condition in which male sexual development is disturbed. Males with Klinefelter syndrome have an extra X chromosome in each cell. This condition disturb normal development of testicles, therefore, males suffering from Klinefelter syndrome may have low levels of the hormone testosterone when they reach puberty.
Klinefelter syndrome is prevalent only among men. It affects 1 in 500 to 1000 males.
Klinefelter syndrome cannot be diagnosed until adulthood. Most men with this syndrome have problems with producing sperm. But certain procedures may make it possible for some men with this syndrome to father children.
Signs and symptoms
The most common symptoms of Klinefelter syndrome include:
- Breast development (gynecomastia)
- Reduced facial and body hair
- Infertility
- Small testes
- Penis does not reach adult size
- Obesity
- Being taller than their father or brothers
- Learning disabilities
- Problems with speech and language development
Possible complications
The possible complications of Klinefelter syndrome are considered to be:
- Increased risk of certain birth defects (e.g., curved fifth fingers and cleft palate)
- Delayed puberty
- Noticeable physical features, such as sparse facial and body hair, unusually long legs and arms, lack of muscular development and enlarged breast tissue
- Learning disabilities, attention problems or social development issues
- Infertility
- Weak bones (osteoporosis)
- Increased risk of varicose veins and other problems with blood vessels
- Increased risk of breast cancer and cancers of the blood, bone marrow or lymph nodes
- Increased risk of lung diseases, such as chronic bronchitis
- Increased risk of autoimmune disorders, such as type 1 diabetes and lupus
- Increased belly fat, which can lead to other health problems
- Problems with sexual function
What causes
The cause of Klinefelter syndrome is one or more extra X chromosome in a male's cells. Extra copies of genes on the X chromosome interfere with male sexual development, disturbing normal function of the testicles and decreasing the levels of testosterone in the body.
Klinefelter syndrome is genetic, it cannot be inherited.
Prevention
There is no exact way to prevent this condition. The scientists continue working under this problem.
Treatment
The common treatment for Klinefelter syndrome includes the intake of a hormone needed for sexual development (testosterone).
It is very important to start treatment at the age of puberty, because it can help a boy's body to develop normally.
There are 2 forms of testosterone: injection and gel. The treatment usually lasts the whole life but it does not prevent infertility.
Doctors recommend speech therapy and educational support for boys with language or learning problems.
