Condition & Treatments
/ Klinefelter syndrome
Klinefelter syndrome and fertility: a chance of your own biological child
Klinefelter syndrome means being born with an extra X chromosome (47,XXY). It affects around 1 in 600 men, and many only find out when they have fertility tests. Most men with Klinefelter have no sperm in the semen, but sperm can be found in the testes of a good proportion with micro-TESE.
I N S H O R T
Klinefelter often goes undiagnosed until a semen test shows no sperm.
Small areas of the testes may still make sperm, which can be found with microdissection testicular sperm extraction (micro-TESE).
Testosterone treatment can switch off any remaining sperm production, so timing and planning matter.
Signs
Small, firm testes, low testosterone, tiredness, reduced body hair, breast tissue (gynaecomastia) and tall stature. Many men have only mild signs.
Treatment options
Micro-TESE: under general anaesthetic, Prof Raheem searches the testes with an operating microscope for areas still making sperm. Any sperm found is frozen for IVF/ICSI, or micro-TESE can be done on the day of your partner's egg collection so the sperm is used fresh.
Hormone optimisation before surgery: in selected men, medicines to raise testosterone inside the testes may be used beforehand.
Planning testosterone treatment: if you need testosterone for your health, sperm retrieval is ideally planned first
Donor sperm or adoption, discussed sensitively, if sperm isn't found.
Why this matters to your care
Prof Raheem has published research on surgical sperm retrieval in Klinefelter syndrome and wrote the Klinefelter chapter in a leading male infertility textbook. He also contributed to a UK multicentre study of sperm retrieval in men with Klinefelter syndrome
Common questions
What are the chances of finding sperm?
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Close to half. A review of 37 studies found sperm in 44% of men with Klinefelter syndrome, with similar results for micro-TESE [1, 2]. Prof Raheem's own results are in line with these published figures.
I'm already on testosterone. Is it too late?
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Not necessarily. Testosterone is usually stopped and other treatment used for some months before micro-TESE.
Will my child have Klinefelter syndrome?
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Most children born this way have normal chromosomes. Embryo testing can be discussed with your IVF clinic
Prof Raheem's published work on this topic
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How successful is surgical sperm retrieval in Klinefelter syndrome? Frontiers in Reproductive Health, 2021. Link
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Klinefelter syndrome (book chapter). Male Infertility in Reproductive Medicine. CRC Press, 2019.
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The impact and management of gynaecomastia in Klinefelter syndrome. Frontiers in Reproductive Health, 2021. Link
References
1. Corona G, et al. Sperm recovery and ICSI outcomes in Klinefelter syndrome: a systematic review and meta-analysis. Human Reproduction Update, 2017;23(3):265–275. Link
2. Raheem AA, et al. How successful is surgical sperm retrieval in Klinefelter syndrome? Frontiers in Reproductive Health, 2021. Link