The Y chromosome and male infertility

Therapies for the treatment of severe male factor infertility have advanced well beyond our knowledge of the conditions we are treating. An intact Y chromosome is necessary for optimal spermatogenesis. It is imperative for the clinician to understand the molecular basis and clinical implications of anomalies that might afflict the Y chromosome.

The molecular geography of the Y chromosome has recently been described, allowing correlations to be made to various clinical states of severe spermatogenic compromise. Microdeletions of parts of the Y chromosome are found in a small number of men with spermatogenic failure involving, predominantly, three regions termed AZFa, AZFb, and AZFc.

It is necessary that a Y chromosomal microdeletion assay be carried out prior to any intervention using ejaculated sperm or prior to any surgical procedure to try to find spermatozoa in an azoospermic man.