Y chromosome and male infertility

Male factor infertility accounts for about half the cases of couple infertility. In more than 60% of cases the origin of reduced testicular function is unknown but they may have an unidentified genetic anomaly. Microdeletions of the long arm of the human Y chromosome are associated with spermatogenic failure and have been used to define three regions of Yq (AZFa, AZFb and AZFc) that are recurrently deleted in infertile males. Several genes have been identified within this region and have been proposed as candidates for infertility. Many of these genes encode proteins involved in post-transcriptional gene expression and therefore could participate in the sperm maturation process. About 10-15% of azoospermic and about 5-10% of severely oligozoospermic men have Yq microdeletions. The deletions are associated with a wide range of histological pictures ranging from Sertoli Cell Only Syndrome (SCOS) to spermatogenic arrest and severe hypospermatogenesis. Assisted reproduction techniques such as in vitro fertilization (IVF) and Intra Cytoplasmic Sperm Injection (ICSI) alone, or in association with testicular sperm retrieval, represent an efficient therapy for these patients. However the potential of these techniques to transmit genetic defects causing male infertility raises the need for a systematic genetic screening and genetic counselling of these patients.