Y Chromosome Testing

Definition - What does Y Chromosome Testing mean?

Y chromosome testing can be performed to obtain a definitive causation of male factor infertility, especially in men with absent or low sperm count (azoospermia or oligozoospermia) or abnormal sperm shape (morphology) or movement (motility) where other causes could not be identified. Y chromosome testing reveals chromosomal abnormalities in 5-10% of these men with the most common abnormality being the absence of portions of the Y chromosome also known as a microdeletion. Males with Y chromosome infertility may experience no symptoms, however, some may have smaller than average testes.

FertilitySmarts explains Y Chromosome Testing

The majority of genes responsible for the healthy production of sperm are found on the Y chromosome. In men whose Y chromosome is dysfunctional or partially missing, the production of sperm is compromised with dysfunction ranging from mild to severe. Y chromosome testing may be an option for men who have ruled out all other causes of infertility and can determine the extent of the genetic factors contributing to poor sperm production. Without any other factors, the extent of fertility issues is correlated with the severity of the Y chromosome dysfunction. Men with mild abnormalities may be able to achieve spontaneous pregnancy, however, those with more severe dysfunction or a greater number of microdeletions may require assisted reproductive technology (ART) like in vitro fertilization (IVF) with retrieved sperm and intracytoplasmic sperm injection (ICSI) for fertilization. Couples with Y chromosome dysfunction have IVF success rates equal to couples with normal Y chromosomes.

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