Screening Kit for AZF STS Markers on the Y Chromosome in the AZFa, AZFb and AZFc Regions. |Devyser AZF ⁠v2

AZF microdeletions on the Y chromosome are the second most common genetic cause of impaired spermatogenesis in infertile men, after Klinefelter syndrome. The test is indicated for men with azoospermia or severe oligozoospermia, and is a routine part of the male infertility workup before deciding on a treatment plan. The EAA/EMQN best practice guidelines define the gold standard method for this indication as basic multiplex PCR, followed by extended analysis to determine the deletion boundaries.

The location of the deletion determines the prognosis, which is why the test has clear practical value. Complete deletion of the AZFa region leads to Sertoli cell-only syndrome; complete deletion of the AZFb region leads to spermatogenic maturation arrest. In both cases, the chance of retrieving sperm by testicular microsurgery (micro-TESE) is almost zero. By contrast, AZFc deletions reduce spermatogenesis, but sperm is still present in a significant proportion of cases, so surgical sperm retrieval for ICSI still has a chance of success. The test result therefore helps couples avoid an invasive, costly surgery when the prognosis already clearly indicates it will be unsuccessful.

The test also provides information for genetic counseling regarding the next generation. If the patient carries an AZFc deletion and has a son through ICSI, the son will inherit this deletion intact and is likely to experience similar reproductive problems in adulthood. This information should be discussed with the couple before assisted reproductive techniques are performed.