Y chromosome microdeletion

The human body is made up of chromosomes, which serve as the blueprints for all the body mechanisms. These chromosomes are inherited from one generation to the other forming the genetic link in a family. Infertility due to the microdeletions in the genes present in the Y chromosome may be one such genetic disorder.

What is Y chromosome microdeletion?

This disorder is caused by missing genes in the Y chromosome, which is an important gene that helps in sperm production. It is a phenomenon that occurs in males and might cause infertility. Such Y microdeletion male infertility often does not exhibit significant symptoms and patients tend to lead normal lives. Even some of the patients with conditions like Oligozoospermia or Azoospermia might suffer from this disorder. After examining the patient for all the possible conditions, the doctor suggests the Y chromosome microdeletion test.

Usually, the Y microdeletion occurs at the region marked as the Azoospermia Factor (AZF) a, b and c. These regions direct the body to produce proteins which are essential in the healthy sperm production.

When an offspring develops inside the mother, it is said to carry the chromosomes from the mother and the father. Y chromosomes are handed down from the father as the male has one Y and one X chromosome and females have 2 X chromosomes. Y chromosome has two arms in its physical structure namely the ‘short arm’ and the ‘long arm’. The Azoospermia factor regions are all located in the long arm of the Y chromosome. The changes in this region of the chromosome will result in conditions like Azoospermia and Oligozoospermia. Each AZF region has its own importance and effect on the male reproductive health.

AZFa

AZFa is the proximal region that supports the process of spermatogenesis. When there is a deletion in this region, the condition is called as Sertoli cell-only syndrome. Males with such condition will be able to nourish the sperm cells but will lack the ability to produce healthy sperms. The treatment plan for such patients is very difficult and doctors suggest assisted reproduction methods.

AZFb

AZFb region is the central region that supports the growth and maturity of the sperms. Patients who have deletions in this region often exhibit sperm cells in their testicular region but are unable to reproduce as the sperm cells do not mature. When this deletion is identified, doctors take up further analysis to understand if the deletion is partial or full and try to conduct a testicular biopsy to check for the presence of sperms in the testicles.

AZFc

AZFc is the distal region of and most of the patients have deletions in this region. This region does not have much influence on the sperm production. AZFc might have a complete deletion of the genes resulting in the lack of sperms or very less number of sperms in the semen. Such conditions are treatable as the patients often have viable sperms in their testicles but are unable to eject it through the semen.

How does the test work?

The test works by extracting the genetic material or the DNA from the blood of the patient, to identify the Y chromosome. There are many existent genetic markers that are used in a series of clinical tests and studies to identify the defects or the mutations in the chromosomal level. In men, Y chromosome infertility may also be due to undescended testes (Cryptorchidism) or unusually small testes.

Who is this test for?

The Y microdeletion test is for male patients with conditions like Azoospermia and other infertility disorders. Men with a history of infertility also are advised to undergo this test to identify if they have any missing genes in their Y chromosome. Doctors suggest this test for patients, when they do not show any particular symptoms and have also undergone the physical examination and other clinical tests.

Benefits of the test

Y chromosome microdeletion test helps in identifying the missing genes in the Y chromosome which might be prevalent in Azoospermic men. This test helps in identifying one of the major disorders that might cause infertility in a man. This test also mainly focuses on the identification of the extent of deletion that is seen in the AZF a, b or c regions of the patient and how it has affected his reproductive ability. Results of this test will help the doctors identify the problem and focus on the proper treatment for the male reproductive issue.

How can I get a Y chromosome microdeletion test done?

Patients who would like to get a Y chromosome microdeletion test done can call Andrology Center
on +91 944 379 3934 or fill in the Make an Appointment form below. You can provide your sample at Andrology Center, Coimbatore on the scheduled date of your appointment.