Clinical Information

Yq microdeletions involving some or all azoospermic factor (AZF) regions, are identified in approximately 3% of infertile men. Yq microdeletions are also the most frequently identified cause of spermatogenic failure in chromosomally normal men with nonobstructive azoospermia (3%-15%) or severe oligospermia (6%-10%). The relative frequency of Yq microdeletions makes the evaluation for them an important aspect of the diagnostic work up in infertile men, especially those with azoospermia or severe oligospermia.

Most cases of Yq microdeletions occur de novo, and due to the consequential infertile phenotype, they are typically not transmitted. However, in cases where assisted reproductive technology (eg, testicular sperm extraction followed by intracytoplasmic sperm injection) is used to achieve viable pregnancy, all male offspring born to a microdeletion carrier will carry the deletion and may be infertile.

Men testing positive for 1 or more microdeletions who are enrolled in an in vitro fertilization treatment program may wish to consider alternative options to intracytoplasmic sperm injection (eg, donor sperm), and consultation with an experienced reproductive endocrinologist and medical geneticist is recommended.

Most Y microdeletions are the result of homologous recombination between repeated sequence blocks. Testing for deletions involves investigating for the presence or absence of markers located within nonpolymorphic regions of the AZF region.