Y-chromosome microdeletions are the second most common cause of male infertility after syndrome Klinefelter. They occur in 11q region of Y chromosome, where azoospermia factor (AZF) is identified, and contains genes important for spermatogenesis. The AZF contains three areas called AZFa, AZFb and AZFc.
- DFFRY and DBY genes in AZFa,
- RBM gene in AZFb and
- DAZ gene in AZFc
have a key role in the process of spermatogenesis.
They are mainly found in patients with azoospermia or oligospermia (sperm concentration less than 10×106/mL). In order to detect them, we isolate genetic material (DNA) from the peripheral blood of patients and amplify specific regions of the Y chromosome by the technique of polymerase chain reaction (PCR).
The molecular identification of these microdeletions is now an important diagnostic test to investigate male infertility and it is important to be done before IVF.