Klinefelter Syndrome

By: Maggie Benfield

What is Klinefelter Syndrome

Klinefelter Syndrome, is a genetic disease in which there is an extra copy of the x linked chromosome particularly found in males. If you have this genetic disease, your body has trouble with sexual development and you may have a learning disability. This syndrome causes the body to not produce a lot of the male hormone testosterone and this usually affects the penis and testicle growth. Klinefelter's syndrome can also affect ones ability to learn, write and keep a long attention span. Although this disease seems hard to live with, most males who have this disease, live a long healthy life, usually with the help of doctors, therapists and other experts.


Klinefelters syndrome has many physical affects to the body as well as mental affects. In babies, this disease can result in very weak muscles, causing the baby to be very fragile, and this syndrome can also result in slow development of motor skills such as sitting up, crawling and walking. Usually when a male baby has this syndrome, there are problems at birth such as the baby's testicles do not descend down into the scrotum. There are a lot more physical features present as the male gets older. Teen boys who have this syndrome, usually are taller than average and have enlarged breast tissue. They are also mentally affected as well and usually have problems socializing and have extreme shyness. Symptoms such as affected testicle growth and small penis size usually affect sexual reproduction due to the lack of sperm.
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Klinefelters syndrome is caused by the presence of an extra x chromosome and this most likely occurs when the female egg is split unevenly. This disease can be triggered by the female egg being split unevenly but it can also be triggered by the male sperm being split unevenly. Since there is an extra x chromosome present in this syndrome, this causes the male to have problems with fertility and sexual development. Problems with fertility and sexual development can cause a male to not be able to reproduce and it affects the testes from functioning normally.
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How is it inherited?

Even though Klinefelter's syndrome is a genetic disease, it is not an inherited condition. Therefore, a male with this syndrome has the same chance of having a child with Klinefelter syndrome as a male without this syndrome. This syndrome is a sex-linked syndrome due to the presence of an extra x chromosome, which can be found on the 23rd chromatid. Klinefelter's syndrome is neither recessive or dominant. Thats what makes Klinefelter's syndrome so unique.
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There are many different types of treatment for Klinefelter's disease, and many of the treatments are therapeutic. Androgen therapy is a type of therapy that is given to patients with this syndrome. During Androgen therapy, doctors give the patient testosterone injections improving there facial hair growth, testicle growth and sexual desire. There is also speech and behavioral therapy used to help the patients socialize better and be able to do better in school. Usually during this therapy, the patient goes through many evaluations and assessments to see they're strengths and weaknesses and try to improve there behavioral problems and socialization.
Klinefelter's Syndrome - Project 47XXY


There are two main tests that are used to diagnose Klinefelter's syndrome, Hormone testing and chromosome analysis. Hormone testing is where the patient is given a blood and urine sample that can identify any abnormality in hormone levels. During this testing the doctor usually takes the tests to be examined in the lab. Chromosome analysis, is usually done by taking blood samples to examine and check the shape and number of chromosomes.
Klinefelter's Syndrome

Population effects

Klinefelters syndrome is a uncommon disease in fact, every 1 to 500 and 1000 males are affected with klinefelters syndrome. Scientists are unsure of what factors increase the risk of Klinefelters.


While doing this project i learned many things from my research. I learned what Klinefelter's syndrome is and how it affects peoples everyday life. I also learned and was surprised with how rare klinefelter's syndrome is and how it is treated.