| Medical Dictionary |
A Medical Dictionary of Medical Terminology
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Klinefelter syndrome (KS) is a genetic condition that happens when a male is born with an extra copy of the X chromosome. KS can affect different stages of physical, language, and social development. It also usually causes infertility.
What causes Klinefelter syndrome (KS)?KS is not inherited. It's caused by a random error that happens when a sperm or egg is formed. This error causes a male to be born with an extra X chromosome.
Chromosomes are tiny "packages" in your cells that contain your genes. Genes carry information, called DNA, that controls what you look like and how your body works. Normally, you're born with a set of 46 chromosomes in each cell, two of which are the sex chromosomes. Females usually have two X chromosomes (XX), and males usually have one X and one Y (XY). In KS, the male usually has two X chromosomes and one Y (XXY).
In rare cases, a male could have XY in some cells and XXY in other cells. This is called mosaic Klinefelter syndrome. Males with mosaic Klinefelter syndrome may have fewer symptoms, depending on the number of XY cells they have in their bodies and where those cells are located.
What are the symptoms of Klinefelter syndrome (KS)?Some males with KS may have no symptoms or very mild symptoms. So they might not know that they have KS, or they might not get diagnosed with it right away. In other cases, the symptoms can be more severe.
Boys with KS may be taller than other boys their age, with more fat around the belly. After puberty, they may have:
Many of these symptoms happen because of low testosterone in the body. Testosterone is the main male sex hormone.
Boys with KS may also have learning or language problems. These problems may affect them socially, so they may be shy and quiet and can have trouble fitting in.
Most males with KS are infertile because they make little or no sperm.
How is Klinefelter syndrome (KS) diagnosed?karyotype testWhat are the treatments for Klinefelter syndrome (KS)?There is no cure for KS, but treatments are available. The sooner the treatment is started, the better. If treatment is started by early puberty, it will likely help in reducing the symptoms.
Treatments for KS may include:
In some cases, fertility treatments may help men with KS father children.
NIH: National Institute of Child Health and Human Development
Although breast cancer is much more common in women, men can get it too. It happens most often to men between the ages of 60 and 70.
Breast lumps usually aren't cancer. However, most men with breast cancer have lumps. Other breast symptoms can include:
Risk factors for male breast cancer include exposure to radiation, a family history of breast cancer, and having high estrogen levels, which can happen with diseases like cirrhosis or Klinefelter syndrome.
Treatment for male breast cancer is usually a mastectomy, which is surgery to remove the breast. Other treatments include radiation, chemotherapy and/or hormone therapy.
NIH: National Cancer Institute
Infertility is a term doctors use if a man hasn't been able to get a woman pregnant after at least one year of trying. Causes of male infertility include:
About a third of the time, infertility is because of a problem with the man. One third of the time, it is a problem with the woman. Sometimes no cause can be found.
If you suspect you are infertile, see your doctor. There are tests that may tell if you have fertility problems. When it is possible to find the cause, treatments may include medicines, surgery, or assisted reproductive technology. Happily, many couples treated for infertility are able to have babies.
NIH: National Institute of Child Health and Human Development