• PMID: 9130751
• Gene Name: DAZ1
• Condition: Infertility
• Association: This study concludes that obstructive azoospermic men with AZF/DAZ deletions may harbour spermatozoa within their testicular parenchyma that can be retrieved for use in combination with ICSI to effect fertilization, embryo development, and pregnancy.
• Mutation: AZF/DAZ deletions
• Population size: 83
• Age: Mean age: 33,34
• Sex: Male
• Infertility type: Male infertility

Azoospermic men with deletion of the DAZ gene cluster are capable of completing spermatogenesis: fertilization, normal embryonic development and pregnancy occur when retrieved testicular spermatozoa are used for intracytoplasmic sperm injection

Mulhall JP, Reijo R, Alagappan R, Brown L, Page D, Carson R, Oates RD.

Some men with non-obstructive azoospermia harbour fully formed spermatozoa within their testicular tissue that can be used to achieve pregnancy via intracytoplasmic sperm injection (ICSI). Recently, Reijo et al. (1995) provided compelling evidence that the DAZ gene cluster is a strong candidate for one of the elusive azoospermia factors (AZF) located on the long arm of the Y chromosome. The DAZ gene cluster is deleted in 13% of azoospermic men and a small percentage of severely oligozoospermic men. Vertical transmission from father to son of AZF region deletions has also been described. Presumably these fathers were oligozoospermic. This led us to ask whether the azoospermic male with deletions of the AZF/DAZ region can also complete minimal spermatogenesis and whether any spermatozoa found could participate in fertilization, embryo development and pregnancy. Three out of six (50%) of the azoospermic men with AZF/DAZ deletions had spermatozoa identified within their harvested testicular tissue. When these spermatozoa were used for ICSI, fertilization occurred in 36% of injected oocytes. This compared favourably with testicular spermatozoa retrieved from non-obstructive azoospermic men without AZF/DAZ gene deletions. In one case, a twin conception resulted, which represents the first term pregnancy reported using spermatozoa from an AZF/DAZ deleted azoospermic male. Therefore it is necessary to take the possibility of transmission of infertility or sterility to our patients' offspring seriously when utilizing today's reproductive technologies, as spermatogenesis in men with AZF/DAZ deletions is by no means an exceptional occurrence. FAU - Mulhall, J P AU - Mulhall JP AD - Department of Urology, Boston University School of Medicine, MA, USA. FAU - Reijo, R AU - Reijo R FAU - Alagappan, R AU - Alagappan R FAU - Brown, L AU - Brown L FAU - Page, D AU - Page D FAU - Carson, R AU - Carson R