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Diseases

Genetic and Rare Diseases Information Center (GARD)

Klinefelter syndrome


Other Names for this Disease
  • Klinefelter's syndrome
  • XXY syndrome
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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 people with Klinefelter syndrome able to have children?

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

People with KS should not automatically assume they are infertile without thorough testing.[2]
Last updated: 10/13/2015

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

Studies of ejaculated or testicular mature sperm in people 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 people a theoretically increased risk of fathering a child with conditions such as Klinefelter syndrome or 47 XXX syndrome. It has also been proposed that affected people may have an increased risk for sperm with an extra copy of chromosome 13, 18, or 21.[1]

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

People interested in learning more about genetic risks and reproductive options should speak with a genetics professional.
Last updated: 10/13/2015

How can I find a genetics professional in my area?

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
Last updated: 7/15/2016

References
  • Aksglaede L, Juul A. Therapy of endocrine disease: Testicular function and fertility in men with Klinefelter syndrome: a review. Eur J Endocrinol. March 15, 2013; 168(4):R67-76.
  • Klinefelter syndrome. Eunice Kennedy Shriver National Institute of Child Health and Human Development. November 2013; http://www.nichd.nih.gov/health/topics/klinefelter/Pages/default.aspx.
Other Names for this Disease
  • Klinefelter's syndrome
  • XXY syndrome
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.