Y Chromosome Microdeletion

Definition - What does Y Chromosome Microdeletion mean?

Y chromosome microdeletion is a condition in which portions of a man's Y chromosome are missing. Since only males possess a Y chromosome parts of this chromosome are responsible for male sexual characteristics. Therefore, if a man is missing genetic material from the Y chromosome, it will impact his ability to produce sperm and can lead to infertility.

Y chromosome microdeletion is also called Y chromosome-related azoospermia.

FertilitySmarts explains Y Chromosome Microdeletion

A man who has Y chromosome microdeletion may produce a lower than normal number of sperm cells (oligospermia), no sperm cells (azoospermia), or sperm cells that are abnormal. There are usually no other signs or symptoms of this disorder, but some men have unusually small or undescended testes.

Usually, men with Y chromosome microdeletion have no family history of the disorder. However, because the genetic changes are on the Y chromosome, men with this condition will pass it on to any male children they have. Female children of affected men will not carry this condition, because they do not possess a Y chromosome.

Although some men with this condition can eventually father a child on their own, others may require the help of assisted reproductive technologies (ART). In less severe forms of the disorder, the testes will contain sperm cells that can be extracted and used to fertilize an egg. In a more serious case called Sertoli cell-only syndrome, men will not have mature sperm cells, even within the testes.


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