Y-Chromosome microdeletions

Andrologists often request Y-chromosome microdeletions in infertile men to ascertain the cause of azoospermia. The test checks the loss of a specific region of the Y-chromosome where the so-called “azoospermia factor” (AZFa, b, and c) are located. Deletions in this chromosomal region remove one or more candidate genes (DAZ, RBMY, USP9Y, and DBY) and cause severe testiculopathy leading to male infertility. These deletions are present in as many as 5% and 10% of severe oligospermic and azoospermic men.