Y chromosome microdeletions and male subfertility

Men with azoospermia and severe oligozoospermia have been investigated by molecular probing of the long arm of the Y chromosome. We find microdeletions affecting various parts of the long arm of the Y chromosome in approximately 10% of men with non-obstructive azoospermia and severe oligozoospermia but not in a fertile comparison population. This work needs further confirmation in different countries and different racial groups but it would appear that microdeletions (and presumably genetic defects) are commonly associated with defects of spermatogenesis. These findings have implications for the management of severe male subfertility with in vitro fertilization/intracytoplasmic sperm injection.