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Study of AZF Microdeletions in Men with Non-obstructive Azoospermia or Severe Oligospermia with Normal Karyotype
Short Title: AZF and Infertility
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R Noujavan1   , SA Rahmani2 , A Ghasemzadeh3 |
1- Department of Genetics, Islamic Azad University of Tabriz, Tabriz Branch, Tabriz, Iran , roghayyeh.nojavan@gmail.com
2- Department of Genetics, Islamic Azad University of Tabriz, Tabriz Branch, Tabriz, Iran
3- Department of Obstetrics and Gynecology, Alzahra Educational and Medical Center, Tabriz University of Medical Sciences, Tabriz, Iran |
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Abstract: (891 Views) |
Background & aim: Microdeletions of the long arm of the Y chromosome cause approximately 6-8% of cases Non-obstructive azoospermia and a smaller percentage of severe oligospermia cases. Identifying these microdeletions is of great importance in making treatment decisions for patients. Therefore, the aim of this study was to determine and investigate microdeletions of the AZF region in men with non-obstructive azoospermia or severe oligospermia with normal karyotype.
Methods: In the present descriptive-analytical study conducted by specialists in the genetic laboratory during 2022-2024, sixty individuals with non-obstructive azoospermia or severe oligospermia were enrolled in the study. Initially, they underwent cytogenetic tests and chromosome analysis to examine the health of the participants' karyotypes, and individuals with numerical and structural chromosomal abnormalities were excluded at this stage. After eliminating 8 individuals with chromosomal abnormalities, the study continued with the remaining 52 individuals with normal karyotypes. Accordingly, the occurrence of AZF microdeletions was detected using three pairs of specific primers, specific for markers 84sY and 86sY for the AZFa region, markers 127sY and 134sY for the AZFb region, and markers 254sY and 255sY for the AZFc region, in the form of Multiplex-PCR technique. The collected data were analyzed by descriptive statistical tests including absolute and relative frequencies.
Results: Among 30 individuals with non-obstructive azoospermia and 22 individuals with severe oligospermia, 6 individuals, 4 of whom had non-obstructive azoospermia and 2 others with severe oligospermia (total 11.53% of the total cases studied), had various types of AZF microdeletions. Thus, in 92.1% (1 person) of the complete deletion of this region, in 92.1% (1 person) of the deletion of the AZFb region and in 69.7% (4 people) of the deletion in the AZFc region was observed. The carrier of the integrated deletion in the triple regions AZFa,b,c, the person with the deletion in the AZFb region and half of the carriers of the deletion in the AZFc region, had non-obstructive azoospermia and all cases of severe oligospermia of the carrier of the deletion also had the deletion in the AZFc region.
Conclusion: The results of the present study indicated the high rate of deletions in the AZF region in infertile men and emphasize the need to perform genetic tests related to this region in affected patients. These findings once again emphasized the importance of performing targeted genetic tests in infertile patients and show that these tests can help in faster diagnosis, reducing unnecessary interventions and choosing more effective treatment. The overall aim of the present study was to determine the prevalence and type of microdeletions of the AZF region located on the Y chromosome in infertile men with normal karyotype.
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| Keywords: Azoospermia, Oligospermia, Microdeletion |
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Full-Text [PDF 601 kb]
(37 Downloads)
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Type of Study: Applicable |
Subject:
Special
Received: 2025/05/13 | Accepted: 2025/09/13 | Published: 2025/09/17
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Noujavan R, Rahmani S, Ghasemzadeh A. Study of AZF Microdeletions in Men with Non-obstructive Azoospermia or Severe Oligospermia with Normal Karyotype
Short Title: AZF and Infertility. armaghanj 2025; 30 (3) :410-425 URL: http://armaghanj.yums.ac.ir/article-1-3805-en.html
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