From the Guidelines
Men with Klinefelter syndrome can have biological children through assisted reproductive technologies, such as testicular sperm extraction (TESE) or microdissection TESE (micro-TESE), which can retrieve viable sperm directly from the testicles for use in in vitro fertilization (IVF) with intracytoplasmic sperm injection (ICSI). However, it's essential to note that Klinefelter syndrome is the most common sex chromosomal disorder in humans, causing hypogonadism and azoospermia in >90% of cases 1. The likelihood of finding sperm is generally higher in younger men and those with less severe testicular dysfunction.
Some key points to consider:
- Success rates vary widely, with studies showing sperm retrieval rates between 30-70% in men with Klinefelter syndrome.
- Men with Klinefelter syndrome who wish to have biological children should consult with a reproductive urologist and fertility specialist as early as possible, as fertility potential may decline with age.
- Hormone therapy with testosterone, which is commonly prescribed for Klinefelter syndrome, may actually reduce sperm production further, so fertility preservation discussions should occur before starting hormone treatment.
- The study from 2017 1 highlights the relevance of attempting salvage, even in cases of subjectively dead testicle, and to offer the patient fertility preservation options.
It's also important to note that the study from 2023 1 is not directly relevant to the question of fertility in men with Klinefelter syndrome, as it focuses on updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome. Therefore, the recommendation is based on the most recent and relevant study, which is from 2017 1.
From the Research
Fertility in Klinefelter Syndrome
People with Klinefelter syndrome can have children with the help of assisted reproductive techniques.
- The use of testicular sperm extraction (TESE) and intracytoplasmic sperm injection (ICSI) has been successful in achieving pregnancies and live births in men with Klinefelter syndrome, as reported in studies 2, 3, 4, 5.
- According to the studies, chromosomally normal sperm cells can be extracted from testicular tissue and used for ICSI, allowing men with Klinefelter syndrome to father children 2, 5.
- The application of assisted reproductive techniques, such as TESE and ICSI, can be recommended as a method to achieve reproduction in men with Klinefelter syndrome, with reported success rates and live births 2, 3, 5.
Success Rates and Live Births
- A total of 133 births of children from Klinefelter fathers have been reported in the literature, indicating the potential for men with Klinefelter syndrome to father children 3.
- Studies have reported high fertilization rates and successful pregnancies using ICSI in men with Klinefelter syndrome, with some reporting live birth rates of up to 46% per TESE attempt 4, 5.
- The use of ICSI has dramatically increased the ability of males previously considered infertile to father children, including those with Klinefelter syndrome 6.