Microdeletion of Azoospermia Factor as one of the Possible Causes of MaleInfertility

Overview

One of the possible causes of male infertility is microdeletion of the Y chromosome in the Yq11.23 region – namedthe azoospermia factor. These deletions are associated with azoospermia or severe oligozoospermia. In these cases,testicular histopathological findings comprise a wide spectrum, from total absence of germ cells, through arrest oftheir maturation to decreased sperm production. Most Y-chromosome microdeletions arise de novo but transmissionfrom the father is also possible, either by the natural way or by assisted reproduction. In relation to the assistedreproduction, the relationship between the Y-deletions and presence of spermatozoa in testis, fertilization capabilityand embryo quality were examined. Heredity of the deleted Y chromosome is holandric and therefore all sons ofmales with deletions will carry the same defect and will probably have fertility problems. Another negative influenceof deletions on a man’s health has not yet been identified.

Key words:
AZF, infertility, azoospermia, oligozoospermia.