Op.Dr. Nurettin Türktekin
Y Chromosome Microdeletion

Y Chromosome Microdeletion

Y Chromosome Microdeletion and Its Impact on Male Fertility

Y chromosome microdeletion analysis is a necessary procedure to diagnose the disease in some men with infertility. The male factor is important in some couples who want to have a child but cannot.

It is recommended to have a microdeletion test in male-related conditions. Especially in people with azoospermia or severe oligoastenoteratospermia (OAT), treatment is applied according to the results of this test. The Y chromosome is of great importance in male infertility. In this process, which started with a study first published in 1976, it was found that people with azoospermia had a loss in the long arm of the Y chromosome. In this article, you can find the answer to the question of what is microdeletion and details about gene tests related to the Y chromosome.

What is Y Chromosome Microdeletion?

It is known that the Y chromosome is of great importance in research on male infertility. When it is said what is a male chromosome, a break in the Y chromosome leads to infertility problems. The long arm of the Y chromosome must contain some gene loci for spermatogenesis to occur. Important results have been obtained in gene tests on the Y chromosome. After the widespread use of the PCR technique, a map showing the genes on the Y chromosome was produced. This map can be used to treat chromosomal disorders in men.

There may be a genetic defect in the Y chromosome, which affects the production of sperm cells in men and causes infertility. It is difficult for men with this problem to have children naturally. Thanks to the Y chromosome microdeletion test, it can be determined whether there is less sperm production than the normal number of sperm cells.

Why is the Y Chromosome Microdeletion Test Performed?

When answering the question of what is the Y chromosome, it is possible that male infertility can be affected by genetic factors. The Y chromosome is a type of chromosome found in males and affects the fertility rate of the sperm cell. Medically, AZFd and AZFa tests are performed to determine the malefactor in some couples with infertility.

A microdeletion test is performed to detect damage to the Y chromosome, which is only found in males. What is a deletion? It is a genetic disease and is a process that causes loss of function as a result of the breakage of parts of genes. Tests such as a testicular biopsy can be performed to determine the causes of the deletion and the reasons behind it. Especially when treating infertility, the male fertility test is performed to examine the gene factor.

Who Can Have a Y Chromosome Microdeletion Test?

In couples who cannot have children, it is necessary to observe whether the genes that provide sperm production in men are damaged. Microdeletion syndromes usually occur in the A, B, and C sections in the AZF region of the Y chromosome. By looking at this part of the chromosome in the laboratory, more detailed information about the infertility problem can be obtained. Men with a serious decrease in sperm count are recommended to have a Y chromosome microdeletion test.

The presence of the Y chromosome in DNA is an important factor that determines whether a person is male. Damage or defects in the Y chromosome, which symbolizes masculinity during the formation of DNA, cause problems in reproduction. For those who are looking for an answer to the question of what a defective Y chromosome means, healthy pregnancy is prevented in such cases. Since sperm formation is done by these genes on the Y chromosome, a break in this part will cause infertility.

How is Y Chromosome Microdeletion Performed?

Some tests are applied to couples who have regular and unprotected sexual intercourse, but pregnancy does not occur within one year. Microdeletion test is one of the tests performed in male factor examination. The male Y chromosome is an effective region in the production of sperm to fertilize the egg cell. Sperm-producing genes are located only in a certain region of the Y chromosome. Infertility can be detected by performing a Y chromosome test to examine whether these genes in the AZF section are damaged.

The Y chromosome microdeletion test is performed by examining the blood taken from the male. Structural disorders in sperm formation are examined in the laboratory environment and important results can be obtained. The Y chromosome, which is an important factor in determining the sex of the living being, causes microdeletion. In the infertility test, Y chromosome microdeletion is performed after preliminary examination, urological tests, and hormone analyses.

For those who wonder what AZFC deletion means in Y chromosome tests, it is the detection of damage in the C region in the gene arm. Genetic breaks in this region prevent men from having children naturally. If damage is detected in the A and B regions other than the C region, infertility is diagnosed. Infertility in men does not only require gene damage. At the same time, gene deficiency can also cause problems in sperm production that will ensure reproduction.

What Happens After Y Chromosome Microdeletion?

The ABC region of the Y chromosome, which determines the reproductive ability of the male sperm cell, must be genetically intact. If there is a gene deficiency or damage in this section, it becomes difficult to have a child naturally. The question of how the number of Y chromosomes increases is a question that concerns genetic science. After the Y chromosome microdeletion is made, it can be detected by performing a testicular ultrasound in the male.

This test targets men with a sperm count below 5 million or no sperm cells visible. Male fertility gradually decreases when the sperm count falls below a certain level. In addition, people with no visible sperm cells may suffer from urological diseases. A Y chromosome test should be performed to detect infertility caused by Y chromosome deficiency. In this way, the cause of infertility is determined in a healthy way.

What are the Advantages of Y Chromosome Microdeletion?

Y chromosome microdeletion performed on men in the detection and treatment of infertility helps to find the cause of infertility by examining the sperm. Various tests are performed to find the factors that cause pregnancy not to occur. Fertility testing, such as Y chromosome microdeletion, is aimed at male reproduction in order to apply the treatment method. Depending on the Y chromosome in the male, conditions such as sperm scarcity or absence of sperm can be seen.

Op. Dr. Nurettin Türktekin applies gene tests and treatment methods for couples who cannot have children in his private clinic. Couples who have had unprotected intercourse for a year and have no pregnancy are treated under professional conditions in our clinic. In our IVF center, where we perform the best infertility treatment in Turkey, results can be obtained quickly with the latest technology machines and our expert team.



Ovarian cysts are fluid-filled sacs or vesicles seen inside the ovary. Normally, during each menstrual period, a cyst called a follicle, which carries the egg cell and can reach 3 cm in size, forms in the ovaries. Then this cyst cracks and the egg is released. In young girls with ovulation problems, normal or physiological follicle cysts that cannot rupture can grow every month and reach 5-10 cm, while small numbers of 0.5-1 cm in size, which we call polycystic ovaries, can be seen in series. Apart from these functional cysts, benign or malignant ovarian cysts can also be seen in all age groups.

Except for the most common functional ovarian cysts, cysts can be benign or malignant tumoral cysts. In addition, as a result of infection, abscess-shaped cysts may occur, which is usually accompanied by pain and high fever.


In medical terms, microdeletion is a deletion smaller than microscopically visible, potentially causing gene breakage and loss of function. This clinical case occurs when a submicroscopic piece of a chromosome is broken. Various diseases can occur in the body because of the broken pieces.

The y chromosome, one of the chromosomes in human DNA, is 58 million base pairs and 2.5 percent of the total DNA in male cells. Each person normally has both sex chromosomes. Women carry the X chromosome and one other X chromosome, while men have the Y chromosome in addition to the X chromosome.

Male DNA contains a Y chromosome in addition to the X chromosome. If a man does not have a Y chromosome, we can talk about an unequal dosage of genes. The Y chromosome also means that humans and platypuses have lost more than 900 genes over the 166 million years that humans and platypuses have evolved separately. This corresponds to a loss of about 5 genes per million years.

According to genetic science, the Y chromosome can be seen by examining the A, B, and C regions in the AZF arm. If gene deficiency or gene damage is detected in the three regions in the tests, the necessary medical diagnosis is made. Such procedures are sperm monitoring procedures performed on semen in men.

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