Y-chromosome microdeletions are relatively frequent and their frequency increases with the severity of the spermatogenic defect. Therefore, testing for Y-chromosome microdeletions is indicated in men with azoospermia and severe oligospermia, and in patients considering assisted reproduction. The Y-chromosome microdeletions cannot be predicted on the basis of clinical findings or the results of semen analysis. Y-chromosome abnormalities will be passed on to any male child who is produced after the assisted reproduction. Since men with these genetic disorders are usually perfectly healthy, apart from infertility, it is uncertain if any other medical conditions will be present in the offsprings with Y chromosome microdeletions.
Genetic counseling is important prior to treatment.
The detection for Y-chromosome microdeletions may provide the diagnosis for infertility and allow physician to direct patients to assisted reproduction or adoption. Since sons of men with Y-chromosome microdeletions conceived with assisted reproduction will be infertile, child's male factor infertility needs to be discussed. Nevertheless, patients need to be counseled before any treatment on the basis of the available data about the risk of transmitted chromosomal defects, de-novo chromosomal aberrations and fertility problems to the offspring. Hinney B.Michelman HW, Krasemann EW, Zoll B., Engel W. Relevance of genetic counselling in couples prior to intracytoplasmic sperm injection. The practical Application of Genetics in the male infertility Clinic.