Klinefelter syndrome is a relatively common genetic defect in males, which often doesn't become apparent until adulthood. Basically, Klinefelter men have an extra copy of the X chromosome in each of their cells. "Normal" men have one X chromosome and one Y chromosome. A man with Klinefelter syndrome may have two or more X chromosomes along with his Y.
This affects testosterone production in the man's body as he grows up, and can impact negatively on the development of his testicles. Nearly all Klinefelter males are infertile. Many men who have this condition never exhibit any symptoms, and are completely unaware of it until they start trying to have kids. Having said that, this lack of testosterone is obvious in some Klinefelter males, in that they may lack facial hair or have over-developed breasts. Some Klinefelter men have noticeably smaller than average testes.
In the vast majority of cases, it is not possible to help a Klinefelter man become a biological father. A very small number of men in this situation have fathered children, but only thanks to a very expensive and not-widely available fertility treatment, which we will describe in greater detail later on.
In the meantime, Klinefelter men who don't have access to such treatments should not give up on the idea of having a family. There are a number of options available to them. Adoption is on obvious one. Even if a man can't be the biological father of his child, his partner may want the experience of being pregnant and giving birth to a baby. This can be achieved through artificial insemination or in-vitro fertilization using donor sperm.
It can be hard for a man to accept that his partner will become pregnant using the sperm of another man, but there are many advantages to using a sperm donor at a licensed fertility clinic.
The identity of the sperm donor is withheld - the donor will never know that he has fathered the child in question unless the child decides when he or she turns 18 to enquire as to the identity of his or her biological father. The donor will have no rights to, or legal or financial responsibilities for your child.
Sperm donations used in reputable fertility clinics have been screened for any harmful infections (such as HIV, Hep C or B) or hereditary genetic disorders, so you know that the sperm you receive is safe.
Depending on the policy of your fertility clinic, you can learn certain details about the physical characteristics of your sperm donor. It's therefore theoretically possible to choose sperm from someone who has the same skin, eye or hair color as you.
The procedure mentioned above, whereby a very small number of Klinefelter men have become biological Dads, is called ICSI. This stands for intracytoplasmic sperm injection. It's a process that involves injecting a sperm cell directly into an egg cell that has been retrieved from a woman's ovaries during IVF treatment. This greatly increases the chances of successful fertilization.
It can be nearly impossible, unfortunately, to find sperm cells suitable for ICSI in a semen sample from a Klinefelter man. Therefore a TESE (testicular sperm extraction) procedure is required.
TESE is essentially a biopsy on the testicles performed under local anesthetic. The surgeon makes a small cut in the scrotum, and then uses a needle to extraction a tiny amount of testicular tissue. Sperm cells are then extracted from this tissue and, if they are living and healthy enough, they're used for ICSI fertilization.