[3][4][6] Minor et al. demonstrated that an AZFc mutation was vertically transmitted over three generations via fathers receiving reproductive assistance through ICSI.
Common phenotypic manifestations of deletions in this region are azoospermia and Sertoli cell-only syndrome.
[3] Men with a complete deletion in the AZFa region are unable to produce testicular spermatozoa for ICSI.
[6] Genes in this region have been found to support the growth and maturity of sperm and are critical for efficient progression of spermatogenesis.
[9] However, such strategy comes has the adverse effects that some rearrangements represent a risk factor or a de facto causative agent of spermatogenic disruption.
[10] Mutations or deletions in the AZF genes are associated with inability or lessened ability to create sperm.