Jan. 6, 2022 | In most cases, every cell within a human male body, with the exception of sperm and red blood cells, contains 46 chromosomes. The 45th and 46th chromosomes – the X and Y chromosomes – are sometimes called “sex chromosomes” because they determine a person’s sex. Normally, males have one X and one Y chromosome, making them XY. Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The syndrome adversely affects testicular growth, which can result in smaller than normal testicles and lower production of the sex hormone testosterone. Klinefelter syndrome may also cause reduced muscle mass, reduced body and facial hair and enlarged breast tissue. The chromosomal disorder often isn’t diagnosed until adulthood and although most men with Klinefelter syndrome produce little or no sperm, assisted reproductive procedures may make it possible for some to father children.

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Jan. 6, 2022 | Klinefelter syndrome occurs when a male is born with an extra sex chromosome. It’s not an inherited condition, the additional chromosome is the result of a random error during the formation of the egg or sperm or after conception. The risk of a child being born with it isn’t increased by anything a parent does or doesn’t do. The only way to confirm the presence of an extra chromosome is by a karyotype test. A health care provider will take a small blood or skin sample and send it to a laboratory, where a technician inspects the cells under a microscope to find the extra chromosome. A karyotype test shows the same results at any time in a person’s life. A small percentage of males with Klinefelter syndrome are diagnosed before birth. This might happen if a pregnant woman has a procedure to examine fetal cells drawn from the amniotic fluid or placenta. Most women who have these procedures are older than 35 or have a family history of genetic conditions.

Jan. 6, 2022 | Although there’s no way to repair the sex chromosome changes due to Klinefelter syndrome, treatments can help minimize its effects. The earlier a diagnosis is made and treatment is started, the greater the benefits. And luckily, it’s never too late to get help. Males with the condition don’t produce enough of the hormone testosterone, which can have lifelong effects. Starting at the time of the usual onset of puberty, testosterone replacement therapy can help treat or prevent a number of problems. The testosterone may be given as an injection or with a gel or patch on the skin. Testosterone replacement therapy allows a boy to undergo the body changes that normally occur at puberty, such as developing a deeper voice, growing facial and body hair, and increasing muscle mass. Testosterone therapy can also improve bone density and reduce the risk of fractures but it will not result in testicle enlargement or improve infertility.

Jan. 6, 2022 | Most men with the chromosomal disorder Klinefelter syndrome are unable to father children because no sperm are produced in their testicles. Some men with the condition may have some minimal sperm production. One option that may benefit men with minimal sperm production is a procedure called intracytoplasmic sperm injection, or ICSI. During ICSI, sperm is removed from the testicle with a biopsy needle and injected directly into the egg. Other alternatives for having children include adoption and artificial insemination with donor sperm. Having Klinefelter syndrome can be a challenge, especially during puberty and young adulthood. For men with the condition, coping with infertility can be difficult. A family therapist or psychologist can help him work through emotional issues. With treatment and support, men with Klinefelter syndrome can expect to lead a normal life. Educational and social support can make a positive difference.