What is Y-Chromosome Infertility?

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Human beings have two sex chromosomes, a Y chromosome and an X chromosome, and these chromosomes, in combination, determine the sex of a human. Where the chromosome combination contains two X chromosomes, it will result in a female where ovaries will grow as the gonadal tissue and when there is an X chromosome and a Y chromosome combination it is an indication that the sex will be a male where testis will grow as the gonadal tissue. Y chromosome infertility is a genetic condition that causes infertility in men due to alterations in their sperm parameters. This condition affects an average of 1 in every 2000 men.


Signs And Diagnosis

Physical signs or symptoms are not usually extremely prevalent when it comes to Y chromosome infertility. Upon a doctor’s examination, it might be clear that the male has a small testis. Other than that, a male’s sperm parameters are affected. Y chromosome infertility is characterised by azoospermia, which is the absence of sperm in the semen, or by moderate to severe oligospermia, which is a low sperm count, and it can also be characterised by a low sperm motility rate and a high prevalence of abnormal structured sperm.

Y chromosome infertility is usually diagnosed via means of specialised genetic tests as well as conducting a semen analysis which will determine the range and levels of the sperm’s characteristics. A testicular biopsy can also be conducted to test for the presence of any sperm within the testicular tissue.



Y chromosome infertility is caused by genetic altercations. This usually happens when genes within the azoospermia factor (AZF) region, which is located on the Y chromosome, are deleted. The deletion of these genes results in the loss of protein production which is responsible for normal sperm cell function and development. Due to the absence of these proteins, it typically results in low to no sperm production and can affect the normal functioning of sperm. When these parameters are affected, it makes it extremely difficult for a male’s sperm to fertilise a female’s egg in order to impregnate her and thus it will take longer or it might even be impossible to conceive a child with a partner due to low fertility or infertility.

This condition is typically not inherited from a father who is not diagnosed with Y chromosome infertility but is rather caused by a mutation in the individual's genome. The only way that it can be inherited is when a male with Y chromosome infertility does have a biological child, the changes on the Y chromosome will be carried over to that boy and he will also be diagnosed with the same disease. This condition can not be carried over from an affected father to his daughter.


Management Options

Y chromosome infertility is a condition that is not curable. However, there are other options to consider if the male wants to father a child of how own. Some of these options include assisted reproductive techniques (ART) that can be conducted via intracytoplasmic sperm injection which injects a single sperm into a female’s egg. This egg will be placed into the uterus of a female. This technique is an example of in-vitro fertilisation (IVF). Other options include sperm extraction in cases where some men do still have sperm, even though it is not available in optimal amounts. The sperm will be extracted from testicular tissue and it can either be cryopreserved to be used at a later stage or it can be placed into a woman’s uterus via intra-uterine insemination (IUI). Sperm that are collected for these procedures are usually collected via a semen sample or via testicular sperm aspiration techniques.


Can A Pregnancy Still Happen?

There have been cases where men were able to father their own biological child in a natural way or via assisted reproductive techniques (ART). This can happen in cases where the male only experiences a slightly lower sperm count than normal. This can also occur when males have viable sperm available in the testicular tissue, it might be that their motility is not as good, and then those sperm can be extracted and planted directly into the uterus to overcome this limiting factor.



It is advised to consult a doctor to confirm a diagnosis when one suspects any fertility-related problems. A proper diagnosis can avoid the negative psychological effects of self-diagnosing and gives the individual a chance to ask questions and discuss possible treatment and management plans. Before going to a doctor it is always good to be prepared with the signs and symptoms one is experiencing, having a record of medical history and medicines one is taking and it can be helpful to have the necessary family history information. For most couples, there is a light at the end of the tunnel by exploring alternative ways to have a child of their own.

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