CLINICAL-SIGNIFICANCE OF Y-CHROMOSOMAL MI CRODELETIONS IN REPRODUCTION GENETIC ROUTINE DIAGNOSTICS IN SEVERE MALE FACTOR SUBFERTILITY

Deletions in the AZF-gene (azoospermia factor) seem to be one genetic cause of severe oligo-asthenoteratozoospermia or azoospermia. Other ca uses are mutations in the CFTR gene (cystic fibrosis transmembrane rec eptor gene) and structural as well as numerical chromosomal aberration s. Until now several authors have published their results concerning d eletions in the AZF gene using a multitude of primers for several sequ ence-tagged sites (STS). In this study 275 men, showing normozoospermi a (n=30), severe OAT syndrome (n=100), cryptozoospermia (n=53), obstru ctive (n=15) or non-obstructive azoospermia (n=77) were analysed. Six STS were checked. Only one patient suffering from non-obstructive azoo spermia showed a deletion in the AZF gene. It was concluded that in a clinical approach deletions in the AZF gene can be found only rarely. Since autosomal genes also seem to be responsible for spermatogenesis, and point mutations of the AZF gene are possible, a diagnostic approa ch concentrating on the AZF gene only does not seem sufficient. Mosaic s of AZF gene deletions have been described in patients without deleti ons in genomic DNA. For counselling infertile couples AZF diagnostics do not appear relevant, without consequences for the decision of an in dividual couple as to whether or not to undergo assisted reproductive procedures. Therefore, from a scientific point of view, AZF diagnostic s are useful, but they have no place in clinical routine.