The most common genetic causes of infertility are chromosomal defects that affect sperm production and lead to infertility. These include:
- Klinefelter syndrome
- Y chromosome deletions
- Chromosome translocations
Chromosomal defects can be detected with a blood test. The common feature of men with chromosomal defects is infertility. Men with chromosomal defects have little or no sperm production, and they are usually diagnosed with severe oligozoospermia or non-obstructive azoospermia. Unfortunately, the chromosomal defect condition cannot be treated, it is not possible to fix the chromosomal abnormality. However, with the development of assisted reproductive techniques, successful treatments are available for patients with chromosome defects. The treatment should be prepared by a urologist experienced in male infertility especially with chromosome defects. Treatment options for men with chromosomal defects may be hormone therapy, Micro TESE (sperm retrieval surgery), ICSI or ROSI with PGT-A.
