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Genetic and Rare Diseases Information Center (GARD)

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Klinefelter syndrome

Other Names for this Disease
  • Klinefelter's syndrome
  • XXY syndrome
Related Diseases
More Related Diseases
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Your Question

My husband has Klinefelter syndrome and we were hoping to go through the ICSI/IVF treatment but we wanted to know if we were successful with the pregnancy with a boy would the boy baby also have Klinefelter syndrome because the father has it?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Are individuals with Klinefelter syndrome able to have children?

Although the vast majority of individuals with Klinefelter syndrome (KS) are azoospermic (have no sperm present in the ejaculate), motile sperms in the ejaculate and even spontaneous pregnancies resulting from fathers with KS have been described, although such cases are rare. In general, individuals with mosaic KS (those that also have a 46,XY cell line) are less severely affected and the chance of finding sperm in the ejaculate in these individuals is significantly higher than in non-mosaic cases. In the past, the use of donor semen (or more rarely by adoption) had been the only possible way of having a child. However, in recent years, testicular sperm extraction (TESE) followed by intracytoplasmic sperm injection (ICSI) have resulted in more than 100 cases of individuals with KS worldwide who became biological parents.[1]

Individuals with KS who would like to have children should discuss their options with their personal healthcare provider. Individuals with Klinefelter syndrome should not automatically assume they are infertile without thorough testing.[2]
Last updated: 9/18/2013

Are the children of an individual with Klinefelter syndrome at increased risk to have the same condition or another chromosome abnormality?

Studies of ejaculated or testicular mature sperm in individuals with Klinefelter syndrome (KS) have shown varying amounts of normal sperm. It has been proposed that adults with KS have a substantially higher proportion of sperm with an abnormal number of chromosomes than those without KS, giving these individuals a theoretically increased risk of fathering a child with conditions such as Klinefelter syndrome or 47 XXX syndrome. It has also been proposed that there may be an increased risk for sperm in affected individuals to have an extra copy of chromosome 13, 18, or 21.[1]

Preimplantation genetic diagnosis (PGD) is generally offered to couples in which someone has KS who undergo successful testicular sperm extraction (TESE) and intracytoplasmic sperm injection (ICSI). This technique allows for identifying and removing chromosomally abnormal embryos in order to avoid transferring them into the uterus.[1]

Individuals interested in learning more about genetic risks and reproductive options should speak with a genetics professional.
Last updated: 9/18/2013

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 10/18/2013