Genetic evaluation of infertile men

Recently, microdeletions in the azoospermic factor region of the Y chromoso me, in addition to chromosomal anomalies, have been detected in men with az oospermia or severe oligozoospermia. In this study we evaluated the molecul ar and cytogenetic defects of infertile men, The frequency of Y microdeleti ons among 105 azoospermic, 28 oligozoospermic and 32 fertile men was tested on lymphocyte DNA using a series of 20 sequence-tagged sites. In addition, microdeletions were evaluated on testicular-derived DNA among 26 azoosperm ic patients who underwent testicular biopsy and in whom no sperm cells coul d be identified. Karyotype analysis was performed on 72 of the infertile pa tients. Deletions were detected in 6.7% azoospermic and 3.6% oligozoospermi c men. No deletions were identified among the fertile men, Identical result s were obtained with DNA derived either from lymphocytes or testicular tiss ue. The frequency of chromosomal aberrations in the 72 infertile patients t ested (62 azoospermic, 10 oligozoospermic) was 16.6%, with a high percentag e of gonosome anomalies. Additional andrological parameters (hormone values , cryptorchidism) failed to identify men at risk for having microdeletions before the test. Our findings support the recommendation to perform genetic defect screening among infertile men before their enrolment in an intracyt oplasmic injection/in-vitro fertilization programme.