Double-Blind Y Chromosome Microdeletion Analysis in Men with Known Sperm Parameters and Reproductive Hormone Profiles: Microdeletions Are Specific for Spermatogenic Failure

Y chromosome microdeletions have been reported as a possible genetic factor of male infertility.Despite a large number of studies in this subject, there is still considerable debate and confusion surrounding the role of Y chromosome microdeletions in male infertility.This has been further compounded by observations of Y microdeletions in fertile males.The aim of the present study was to evaluate: 1) the incidence of Y microdeletions in control male population and infertile males, where complete semen and hormonal analysis was available to define whether Y microdeletions are specific for spermatogenic failure or if they can be found also in normospermic men; and 2) whether the suboptimal semen quality reported in Denmark is associated with a higher incidence of Y microdeletions in respect to other populations.Double-blind molecular study of deletions was performed in 138 consecutive patients seeking intracytoplasmic sperm injection treatment, 100 men of known fertility, and 107 young