Y chromosome Microdeletion Test
Understanding Y Microdeletion Test in Male Infertility
Y chromosome microdeletion
Humans have chromosomes that act like blueprints for the body. Men have one Y and one X chromosome, while women have two X chromosomes, apart from the regular 22 pairs of chromosomes (autosomes). Sometimes, small parts of the Y chromosome are missing, which can lead to infertility. This missing part can affect sperm production and is one of the genetic issues linked to male infertility
What is Y chromosome microdeletion?
This condition involves missing genes on the Y chromosome, which is crucial for producing sperm. This type of infertility often doesn’t show clear symptoms, and many men might not know they have it, leading normal lives. Some patients with conditions like Oligozoospermia or Azoospermia may have the Y chromosome microdeletion, so Doctors recommend the Y chromosome microdeletion test after checking for other possible conditions. The test looks at specific areas on the Y chromosome called the Azoospermia Factor (AZF) regions, which are important for making proteins needed for healthy sperm.
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 a baby grows inside its mother, it inherits chromosomes from both parents. The father provides a Y chromosome, which has two parts: a short arm and a long arm. Problems in the long arm of the Y chromosome, specifically in areas called Azoospermia Factor (AZF) regions, can lead to fertility issues like azoospermia (no sperm production) and oligozoospermia (low sperm production).
AZFa: This is the upper region of the Y chromosome that helps start sperm production. If this region is missing, a condition called Sertoli cell-only syndrome can occur, where men have the cells that support sperm but cannot make healthy sperm. Such cases often require assisted reproductive methods.
AZFb: This is the middle region of the Y chromosome that helps sperm grow and mature. If there are deletions here, sperm may be present in the testes but not develop and mature properly, leading to Infertility. Doctors might perform further tests to check if the deletion is partial or complete and biopsy to see if sperm can be retrieved directly from the testes.
AZFc: This lower region of the Y chromosome, where deletions are common but generally have a lesser impact on sperm production. However, complete deletions in this area can lead to very low sperm counts or no sperm in the semen, although viable sperm might still be present in the testes. These cases can often be treated, allowing men to father children through certain medical procedures.
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How does the Y-chromosome microdeletion test work?
The test involves taking a blood sample and checking the DNA for any missing parts of the Y chromosome. It helps identify if the patient has genetic issues that could affect fertility, such as not having enough sperm (azoospermia) or having immature sperm.
Who is this Y-chromosome microdeletion test for?
Men who have no sperm or very few sperm (Azoospermia, Severe Oligozoospermia or Cryptozoospermia) and other fertility problems might need this test. It is also suggested for men who have been trying to have children without success.
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.
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