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This site is in-development and may not reflect the final version. 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. Klinefelter syndrome usually occurs as a random event during the formation of reproductive cells eggs and sperm. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes.
Some guys have few or no obvious signs. Other times, Klinefelter syndrome interferes with speech, learning, and development. Boys with Klinefelter syndrome may have difficulty with spelling, reading, writing, and paying attention.
They may tend to be quiet, shy, and more reserved or sensitive than other guys. Some boys with Klinefelter syndrome are less interested in sports or physical activities. Since high-school life often revolves around schoolwork and sports, guys with Klinefelter may feel like they don't fit in or lack self-confidence. But, as men, most have normal friendships and relationships. Most teens with Klinefelter syndrome aren't likely to have major health problems.
But the condition can bring challenges later in life. For example, guys with Klinefelter syndrome may be more likely to get some types of cancer and other diseases, like type 2 diabetes and osteoporosis, a condition where the bones become weaker later in life. As men, most guys with Klinefelter syndrome can have sex, usually with the help of testosterone treatment. But problems with their testicles prevent them from making enough normal sperm to father children. Fertility researchers are working on new treatments.
By the time a teen with Klinefelter syndrome is ready to become a dad, there may be new options available related to the extraction of sperm from the testicles. The earlier a guy finds out about Klinefelter syndrome, the better. Treatments are most effective if they start while a guy is still young. About Klinefelter syndrome. National Human Genome Research Institute. Klinefelter syndrome 47,XXY.
Merck Manual Professional Version. Klinefelter syndrome KS. Genetic and Rare Diseases Information Center. Bearelly P, et al. Recent advances in managing and understanding Klinefelter syndrome. Ferri FF. In: Ferri's Clinical Advisor Elsevier; Hererra Lizarazo A, et al. Endocrine aspects of Klinefelter syndrome. Current Opinion in Endocrinology, Diabetes and Obesity. Often, boys and men with this condition have milder signs and symptoms than others with the XXY condition.
Not all boys with Klinefelter syndrome will have noticeable symptoms. Other boys can have symptoms that are physically apparent or problems with speech, learning, and development. Babies with Klinefelter syndrome typically have weak muscles, reduced strength, and quiet personalities. They also can take longer to do things like sit up, crawl, walk, and speak.
Compared with other kids their age, boys with Klinefelter syndrome might have some or all of these symptoms:. Klinefelter syndrome typically causes a boy's testicles to grow at a slower rate than those of other boys. It also prevents the testicles from producing normal amounts of sperm and the hormone testosterone. Testosterone affects the way a boy develops both physically and sexually.
Low hormone levels and problems with sperm production make it difficult or sometimes impossible for a boy with Klinefelter syndrome to father a child later in life. Many boys with Klinefelter syndrome show symptoms related to their development of social and language skills. They may have trouble paying attention. A lot of boys learn to talk late or have trouble using words to express their emotions. They also can have trouble with things like learning to spell, read, and write.
Socially, they tend to have quiet personalities. They rarely cause trouble and are often more helpful and thoughtful than other boys. They're often shy and sensitive, and many are less self-confident and less active than other boys their age. Most boys aren't likely to have major health problems, but the condition can bring some other challenges later in life.
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