Severe male infertility. Genetic investigation and counseling prior to intracytoplasmic sperm injection

: Intracytoplasmatic sperm injection (ICSI) has improved the success rate in treating severe male infertility. The method may now be used with sperm from the epididymis and testis. This article summarizes our knowledge on genetic factors affecting male gamete formation or function. Infertile men with severe impairment of spermatogenesis showed a higher than normal incidence of chromosomal abnormalities and 10-20% had microdeletion, in the Y-chromosome. About 75% of males with congenital bilateral absence of vas deferens (CBAVD) have mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. In conclusion, we recommend genetic counselling to all couples with a diagnosis of male infertility prior to ICSI. Men with severe oligozoospermia or non-obstructive azoospermia should have karyotype analysis performed and with establishment of diagnostic tools to reveal Y-chromosome deletions, this should be offered to the same group of men. Men with obstructive azoospermia and congenital albilateral absence of vas deferens as well as their wives should be screened for cystic fibrosis mutations.