Male infertility AZF deletion test

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With the development of genetics, scientists have discovered the role of the AZF gene in spermatogenesis in men. The AZF deletion test is an important male infertility test that helps doctors diagnose and guide treatment.

1. What is AZF?

AZF stands for Azoospermia factor - azoospermia factor, this is a region located on the long arm of the Y chromosome, containing many important genes that govern spermatogenesis in men. These genes are distributed in 3 regions, AFZa, AFZb and AFZc. When mutations delete the AFZ segment, depending on which AFZ region is affected, the effects will be different.
If the deletion mutation occurs in the AZFa region, it will lead to azoospermia and simple Sertoli syndrome (testicles only have cells that help sperm develop, not sperm). If deletion occurs in the AZFb region, deletion of a small segment will result in the phenotype of spermatogenesis, and deletion of a large segment will lead to azoospermia.
The AZFc region is about 1.4 Mb in size and is located near the heterochromia region. Mutations appearing in the AZFc region can cause diverse manifestations in men, with normal spermatozoa, mild oligomenorrhea, severe oligomenorrhea or azoospermia.
In some cases, deletion of the combined segment may occur, such as deletion of the AZFb+ c region, AZF a+ b + c deletion.

2. Why should AZF deletion test be performed?

Among the genetic causes of male infertility, the AZF deletion mutation is the second leading cause of infertility after Klinefelter Syndrome. Performing the AZF deletion test will help determine whether the cause of male infertility is due to mutations in the AZF region on the Y chromosome.
Due to the influence of deletion mutations occurring in different AFZ regions, it will cause different effects on male reproductive function. If male infertility is caused by a deletion mutation in the AZFa region, the AZFb region, or a combination deletion mutation, the man will not be able to have sperm and will not be able to have children. The treatment should be stopped because it will be ineffective and costly for the patient. However, deletion mutation occurs in the AZFc region, 70% of cases can find sperm cells, these cells will be biopsied, aspirated and then cultured in special media to differentiate into sperm. These sperms will be used for in vitro fertilization or for medical treatment to stimulate spermatogenesis.
Thus, the AZF deletion test is an important male infertility test, helping to determine the cause of infertility, orienting doctors to appropriate treatment, and reducing ineffective treatment costs for patients. When a patient with a deletion mutation in the AZF segment is successfully treated and is able to have children, if a girl is born, there will be no Y sex chromosome so it will not be affected, but if she gives birth to a boy, she will have a baby. inherited the Y mutation gene and will later also suffer from male infertility . Therefore, the AZF deletion test is the basis for doctors to give genetic counseling to patients, help patients understand their condition and choose appropriate treatment.

3. In which cases is the AZF deletion test indicated?

The AZF deletion test is indicated in the following cases:
Men with azoospermia, no sperm in the semen due to non-obstruction or severe oligospermia (semen containing less than 5 million sperm/ml). Before surgery to remove a varicocele in a patient with varicocele, the AZF test is used to screen for the physician to decide whether to perform this surgery, because if the cause of infertility is Due to the AFZ deletion mutation, vasectomy also cannot improve sperm weakness. In the family, there is an older brother, a younger brother who has a deletion mutation, a family history of multiple miscarriages, malformations or mental retardation.

4. Where should the AZF deletion test be performed?

RealTime-PCR or QF-PCR are the technologies currently used to perform the AZF fragment deletion assay. These are modern technologies, bringing high accuracy, patients will get blood samples and receive results in 2-3 days.
Reproductive Support Center - Vinmec International General Hospital gathers a team of leading experts in the field of Obstetrics and Gynecology, and Orthopedics, both domestically and internationally, and a team of doctors and nurses trained in leading countries. leading in the world in medicine such as the US, Singapore, Japan, Australia and world-renowned assisted reproductive centers. With a high level of expertise and extensive experience, the team of experts at Vinmec Fertility Center are capable of synchronously and comprehensively deploying today's most advanced assisted reproductive techniques, helping to realize fulfill the parenting dream of hundreds of families across Vietnam.

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