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Y chromosome microdeletion - accents

- Y chromosome microdeletion means missing genes in particular areas of the Y chromosome, connected with the process of sperm production.

- The diagnosis Y chromosome microdeletion is given through polymerase chase reaction (PCR) of DNA.

- Y chromosome microdeletion can be detected in 10-15% of men with Azoospermia and 5-10% of men with severe Oligozoospermia.

Y chromosome microdeletion

What is the Y chromosome microdeletion?
Y chromosome microdeletion can be detected in 10-15% of men with Azoospermia and 5-10% of men with severe Oligozoospermia. The specification of the deletion helps the assisted reproduction treatment and the options are:
- ICSI treatment
- Sperm cells cryopreservation for patients with Oligozoospermia with a higher risk of progressive loss of sperm concentration in the ejaculate
- Testicular Epididymal Sperm Aspiration (TESA)
- Using a sperm donor

Y chromosome microdeletion means missing genes in particular areas of the Y chromosome, connected with the process of sperm production. The diagnosis is given through polymerase chase reaction (PCR) of DNA, which includes analysis of different parts of the Y chromosome - AZFa, AZFb, AZFc:

- АZF (Azoospermia Factor Region): There is sperm production, but weak and the sperm cells have a mutation in the Y chromosome. There is a relation - fewer the sperm cells, higher the frequency of deletion. After pregnancy, the Y chromosome deletion is transmitted to the male offspring (from father to son).

- Deletions in the AZFa part are usually connected with Azoospermia and rarely with Oligozoospermia.

- Deletions in the AZFb part are connected with blockage of sperm production at spermatocyte level and are usually combined with Azoospermia, severe to a mild form of Oligospermia and Normospermia.

- Deletions in the AZFc part are connected with Azoospermia, severe to a mild form of Oligospermia, and production of insufficiently mature sperm cells.

- Microdeletions on AZFa and AZFb lead to the inferior prognosis for sperm collection through TESA. The deletions in AZFc (80% of all the cases) have a chance for enough sperm collection for IVF/ICSI procedure.

When is required?
The testing for Y chromosome microdeletion is required in cases with:
- Unexplained infertility
- Azoospermia or severe Oligozoospermia
- Assisted reproductive techniques application

Do I need to book an appointment?
The testing is through blood example, and there is no need for preliminary booking of an appointment.

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