There's no cure for Klinefelter syndrome, but some of the problems associated with the condition can be treated if necessary. TRT involves taking medicines containing testosterone. It can be taken in the form of gels or tablets in teenagers, or given as gel or injections in adult men. TRT may be considered once puberty begins and may help with the development of a deep voice, facial and body hair, an increase in muscle mass, reduction in body fat, and improvement in energy.
There is also evidence that it can help with learning and behavioural problems. Long-term treatment during adulthood may also help with several other problems associated with Klinefelter syndrome — including osteoporosis, low mood, reduced sex drive, low self-esteem and low energy levels — although it cannot reverse infertility.
If you or your son has been diagnosed with Klinefelter syndrome, you might find it useful to find out more about it and get in touch with others affected by it. Page last reviewed: 20 May Next review due: 20 May Klinefelter syndrome. Klinefelter syndrome affects around 1 in every males. If you have a low sperm count, a procedure called intracytoplasmic sperm extraction with intracytoplasmic sperm injection TESE-ICSI removes sperm directly from your testicle and injects it into an egg to increase the chances of pregnancy.
It can be hard to live with Klinefelter syndrome. Boys might be embarrassed about the lack of changes in their body during puberty. A therapist or counselor can help you manage any depression, low self-esteem, or other emotional issues that stem from this condition. You might also look for a support group, where you can talk with other men who have this condition. You can find support groups through your doctor or on the internet.
Children with Klinefelter syndrome often need extra help in school. Contact your local school district to find out about special programs for kids with disabilities. Many boys with Klinefelter syndrome have more trouble interacting socially than their peers.
An occupational or behavioral therapist can help them learn social skills. You and your doctor will need to watch out for conditions that are more common in men with Klinefelter syndrome, including:. According to research , Klinefelter syndrome can shorten your life expectancy up to two years. However, you can still live a long, full life with this condition. The earlier you get treatment, the better your outlook will be.
Mosaic Down syndrome is a rare, less severe form of Down syndrome. We explain the condition, its cause, symptoms, and how to diagnose it. Down syndrome is the most common genetic condition in the United States. Curly hair is determined by factors you inherit from your biological parents. This section provides resources to help you learn about medical research and ways to get involved. Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services.
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These resources can help families navigate various aspects of living with a rare disease. These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Questions sent to GARD may be posted here if the information could be helpful to others.
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Preview the new GARD site. Not a rare disease. Other Names:. Congenital and Genetic Diseases. This disease is grouped under:. Summary Summary. Symptoms Symptoms. The signs and symptoms of Klinefelter syndrome KS vary among affected people. Some men with KS have no symptoms of the condition or are only mildy affected. In these cases, they may not even know that they are affected by KS.
In these cases, known as "variants of Klinefelter syndrome", the signs and symptoms can be more severe and may include: [1] [2] [4] Intellectual disability Distinctive facial features Skeletal abnormalities Poor coordination Severe speech difficulties Behavioral problems Heart defects Teeth problems.
Cause Cause. Rarely, other cells may have additional chromosome abnormalities. It is thought that less than 10 percent of individuals with Klinefelter syndrome have the mosaic form. Boys and men with mosaic Klinefelter syndrome may have milder signs and symptoms than those with the extra X chromosome in all of their cells, depending on what proportion of cells have the additional chromosome.
Several conditions resulting from the presence of more than one extra sex chromosome in each cell are sometimes described as variants of Klinefelter syndrome.
Like Klinefelter syndrome, these conditions affect male sexual development and can be associated with learning disabilities and problems with speech and language development. However, the features of these disorders tend to be more severe than those of Klinefelter syndrome and affect more parts of the body. As doctors and researchers have learned more about the differences between these sex chromosome disorders, they have started to consider them as separate conditions. Klinefelter syndrome is not inherited; the addition of an extra X chromosome occurs during the formation of reproductive cells eggs or sperm in one of an affected person's parents.
During cell division , an error called nondisjunction prevents X chromosomes from being distributed normally among reproductive cells as they form. Typically, as cells divide, each egg cell gets a single X chromosome, and each sperm cell gets either an X chromosome or a Y chromosome. However, because of nondisjunction, an egg cell or a sperm cell can also end up with an extra copy of the X chromosome. If an egg cell with an extra X chromosome XX is fertilized by a sperm cell with one Y chromosome, the resulting child will have Klinefelter syndrome.
Similarly, if a sperm cell with both an X chromosome and a Y chromosome XY fertilizes an egg cell with a single X chromosome, the resulting child will have Klinefelter syndrome. It occurs as a random error during cell division early in fetal development. As a result, some of the body's cells have the usual one X chromosome and one Y chromosome 46,XY , and other cells have an extra copy of the X chromosome 47,XXY.
Genetics Home Reference has merged with MedlinePlus. Learn more. The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health. Klinefelter syndrome. From Genetics Home Reference.
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