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Karyotype Abnormalities

Humans normally have 46 somatic chromosomes and two sex chromosomes. The male inherits a single X and a single Y chromosome. The female has two X chromosomes. Having extra sex chromosomes causes relatively little disruption to the individual and most individuals with extra sex chromosomes will never become aware of it.

Men with infertility may have an extra X or an extra Y chromosome. The testing to determine this is a karyotype. Having an extra X chromosome is more common and is referred to as Kleinfelter's syndrome. Most men with Kleinfelter's syndrome will not have sperm in their ejaculate (azoospermia). However, about 70% will have sperm that can be retrieved from their testicles. Pregnancies can then be achieved with TESE (surgically obtained sperm is used in IVF/ICSI) and optimally with PGD to avoid transferring the defect to the child.

Experts recommend karyotype testing for men planning to undergo ICSI and having very low (or no) sperm counts. Undertaking karyotype testing involves an individual decision. Some patients chose to have this testing. Others do not. The reasons are varied. Some men don't want to know, some don't want to spend the extra time involved, and some are concerned about extra expenses.