Y-chromosome microdeletion & Male Infertility

Y-chromosomes micro deletion test

                     The human body is made from chromosomes, which function the blueprints for all of the body mechanisms. These chromosomes are inherited from one generation to the next one forming the genetic link in a family. Infertility due to the Y-chromosome microdeletion of genes present in the sex chromosome can be one such genetic disorder.

Only men deliver Y-chromosomes due to the fact they inherit this chromosome from their father.

Males carry 23 pairs of chromosomes in their cells

Y-chromosome check is a relationship test, carried out among alleged male relatives to verify their shared paternal lineage.                      

                  The Y-chromosome microdeletion test is primarily based totally at the evaluation of eleven genetic markers to appropriately verify whether or not men tested proportion the identical paternal line. If the DNA profiles do now no longer match, the men examined do now no longer share the identical paternal line. Due to the reality women do now no longer have Y-chromosomes; they’re not able to perform this test. Woman and want to set up whether share the identical father can both ask a male blood relative to take the check in behalf, perform a sibling test or a paternity test

What is Y chromosome microdeletion?

                           This disorder is resulting from missing genes withinside the Y chromosome that is an essential gene that enables in sperm production. It is a phenomenon that takes place in men and can reason infertility. Such Y- chromosome microdeletion male infertility frequently does now no longer exhibit significant signs and symptoms and patients tend to lead everyday lives. Even a number of the patients with situations like Oligozoospermia or Azoospermia may be afflicted by this disorder. After analyzing the patient for all of the viable situations.

Y-Chromosome Microdeletion
Y-Chromosome Microdeletion

                    The doctor indicates the Y-chromosome microdeletion test. Y microdeletion happens on the region marked because the Azoospermia Factor (AZF) a, b and c. These areas direct the body to supply proteins which might be critical in the healthy sperm production. When an offspring develops in the mother, it is stated to hold the chromosomes from the mother and the father. Y chromosome microdeletion is exceeded down from the father because the men have one Y and one X chromosome and women have 2 X chromosomes.

Structural defects in Y-chromosome microdeletion

Y chromosome has arms in its physical structure particularly the ‘short arm’ and the ‘lengthy arm’. The Azoospermia issue regions are all located within side the lengthy arm of the Y chromosome. The modifications on this region of the chromosome will bring about situations like Azoospermia and Oligozoospermia. Each AZF region has its very own significance and impact at the male reproductive health.


                      AZFa is the proximal area that helps the technique of spermatogenesis. When there’s a deletion on this area, the situation is referred to as Sertoli cell-only syndrome. Males with such situation can be capable of nourish the sperm cells however will lack the ability to supply healthy sperms. The treatment plan for such sufferers is very hard and doctors recommend assisted reproduction methods.


                    AZF b area is the primary region that helps the growth and maturity of the sperms. Patients who’ve Y- chromosome microdeletion in this area frequently exhibit sperm cells of their testicular place however are not able to breed because the sperm cells do now no longer mature. When this deletion is identified, medical doctors take in similarly evaluation to apprehend if the Y- chromosome microdeletion is partial or complete and attempt to behavior a testicular biopsy to test for the presence of sperms in the testicles.


             AZF c is the distal area of and maximum of the patients have deletions on this region. This area does not have lots have an impact on at the sperm production. AZFc may have a whole deletion of the genes resulting withinside the loss of sperms or very much less quantity of sperms withinside the semen. Such situations are treatable because the patients frequently have viable sperms of their testicles however are not able to eject it through the semen.

How does the test work?

                         The test works with the aid of using extracting the genetic material or the DNA from the blood of the patient, to identify the Y- chromosome microdeletion. There are many existent genetic markers which can be used in a sequence of clinical tests and research to discover the defects or the mutations within side the chromosomal level. In men, Y chromosome microdeletion infertility can also be because of Cryptorchidism or unusually small testes.

Who is this test for?

                       The Y chromosome microdeletion test is for male patients with situations like Azoospermia and different infertility disorders. Men with records of infertility are also suggested to go through this test to become aware of in the event that they have any missing genes of their Y chromosome. Doctors suggest this test for patients, once they do now no longer show any particular signs and symptoms feature also undergone the physical examination and different clinical tests.

Benefits of the test for Y chromosome microdeletion

Y chromosome microdeletion check helps in identifying the lacking genes within side the Y chromosome which might be conventional in Azoospermia men. This test allows in identifying one of the important issues that might reason infertility in a man. This check additionally mainly focuses on the identity of the extent of deletion this is seen within side the AZF a, b or c regions of the affected person and the way it has affected his reproductive ability. Results of this check will assist the doctors identify the trouble and focus on the right treatment for the male reproductive issue.

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