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INFERTILITY

Y Deletion and Infertility

Microdeletions are common in men who lack sperm
Fertility options for men with Y microdeletions
Microdeletions are passed on to sons

Microdeletions Are Common in Men Who Lack Sperm

Y chromosome microdeletions are the second most common genetic reason that men have a low sperm count or lack sperm. (Klinefelter syndrome is the most common reason.) Currently, there are no other known health problems that come from having a Y chromosome microdeletion other than infertility.

Fertility Status and Y Chromosome Microdeletions

Status	Percent of These Men With a Y Deletion
Azoospermic	~13%
Infertile	~6-8%
Fertile	~2%

Fertility Options with Y Microdeletions

It is possible for some men with Y microdeletions to conceive a child. This possibility depends on the nature of the deletion.

No Sperm (Azoospermia)

For men without sperm in their semen because of Y chromosome microdeletions, assisted reproduction is the only way they can have a biological child. Although sperm doesn't make it to the semen, it may be possible to retrieve enough sperm from the epididymis or the testes for some form of assisted reproduction.

For example, a procedure called intracytoplasmic sperm injection (ICSI) injects one sperm into one egg. Whereas millions of sperm are required for more traditional in vitro fertilization, with ICSI, clinics can provide similar outcomes with just a few sperm.

In cases where no sperm can be obtained, donor sperm is necessary for fertilization. If a couple decides to use donor sperm from one of the man's relatives, they should consider asking the donor to get genetic testing, because he may also be affected with a Y deletion. For example, a man's brother would almost certainly have inherited the same Y chromosome microdeletion(s).

Low Sperm Counts (Oligospermia)

Although men with low sperm counts can sometimes conceive naturally, couples often decide to pursue assisted reproduction to increase their chances.

A clinician can help such couples decide if ICSI or a more traditional assisted reproductive technology is most appropriate for their situation.

Microdeletions Are Passed on to Sons

If assisted reproduction is successful, a son would carry the same Y chromosome microdeletion as his father. A trusted clinician can help a couple decide whether they want to proceed with assisted reproduction using the man's sperm, use donor sperm, attempt techniques to conceive a daughter, consider adoption, or consider not having children.