What is the prevalence of Klinefelter Syndrome?

How many people does Klinefelter Syndrome affect? Does it have the same prevalence in men and women? And in the different countries?


Klinefelter Syndrome is a genetic disorder that affects males, typically resulting in the presence of an extra X chromosome (XXY) instead of the usual XY configuration. It is one of the most common chromosomal disorders, with a prevalence of approximately 1 in 500 to 1 in 1,000 male births. However, it is important to note that many individuals with Klinefelter Syndrome may go undiagnosed due to mild or atypical symptoms.


The prevalence of Klinefelter Syndrome varies across different populations and is influenced by factors such as maternal age. Advanced maternal age has been associated with a higher risk of having a child with this condition. Additionally, the prevalence may differ depending on the diagnostic methods used and the criteria for diagnosis.


While Klinefelter Syndrome is a relatively common genetic disorder, it is crucial to raise awareness about it to ensure early detection and appropriate medical interventions. Early diagnosis and management can help individuals with Klinefelter Syndrome lead fulfilling lives and mitigate potential physical, cognitive, and psychosocial challenges associated with the condition.


by Diseasemaps

1 in 500 seems to be the most used. Some studies say 1 in 1000. It only affects male as the Y chromosome is what makes one a male. Though I have read that some only have a very small piece of the Y present giving the newborn the appearance of female genitalia, though considered very rare. Research indicates only about 20% of males with KS are diagnosed though this should change with the availability of DNA tests.

8/18/17 by Stephen 2000

it is said 1 in every 500 boys develop it

3/4/18 by Adrian 1600

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