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Y Chromosome Microdeletions

Everything about us has at least a partial genetic basis. Researchers have long sought to discover what DNA sequences are necessary for sperm production. One outcome of this research has been to determine that when certain sequences of DNA coding are missing, men either produce no sperm (azoospermia) or have low sperm counts (less than 5 million sperm/ml). Conversely, in one study 8% of men with azoospermia had Y chromosome microdeletions, 6% of men with sperm concentrations less than one million/ml had Y chromosome microdeletions, and 2% of men with sperm concentrations less than five million sperm/ml had Y chromosome microdeletions.

Y-chromosome microdeletion testing is now clinically available. Men with very low sperm counts may wish to be tested for this, since if pregnancy is achieved, this genetic information/defect will be passed on to male children. (Female children will not be affected.) Men with azoospermia considering TESE (when sperm is harvested from the testicles for use in achieving pregnancy) may also wish to have such testing done. Here the location of the particular deletion in the Y chromosome correlates with success using TESE.