Detection of Y-Chromosome microdeletions in Egyptian infertile males
Ahmed, A., El-Dessouky, M., Fahmi, A., ElRefaey, F., ElNahass, Y. (2019). Detection of Y-Chromosome microdeletions in Egyptian infertile males. EKB Journal Management System, 36(1), 512-525. doi: 10.21608/jsrs.2019.77051
Azza S. Ahmed; Mohamed A. El-Dessouky; Abdelgawad A. Fahmi; Fatma A. ElRefaey; Yasser H. ElNahass. "Detection of Y-Chromosome microdeletions in Egyptian infertile males". EKB Journal Management System, 36, 1, 2019, 512-525. doi: 10.21608/jsrs.2019.77051
Ahmed, A., El-Dessouky, M., Fahmi, A., ElRefaey, F., ElNahass, Y. (2019). 'Detection of Y-Chromosome microdeletions in Egyptian infertile males', EKB Journal Management System, 36(1), pp. 512-525. doi: 10.21608/jsrs.2019.77051
Ahmed, A., El-Dessouky, M., Fahmi, A., ElRefaey, F., ElNahass, Y. Detection of Y-Chromosome microdeletions in Egyptian infertile males. EKB Journal Management System, 2019; 36(1): 512-525. doi: 10.21608/jsrs.2019.77051

Detection of Y-Chromosome microdeletions in Egyptian infertile males

Journal of Scientific Research in Science
Article 33, Volume 36, Issue 1, April 2019, Page 512-525  XML PDF (643.05 K)
Document Type: Original Article
DOI: 10.21608/jsrs.2019.77051
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Authors
Azza S. Ahmed* 1; Mohamed A. El-Dessouky1; Abdelgawad A. Fahmi1; Fatma A. ElRefaey2; Yasser H. ElNahass2
1Chesmistry Department, Faculty of Science, Cairo University, Egypt
2Clinical Pathology Department, National Cancer Institute, Cairo University, Egypt.
Abstract
The major genetic causes in male infertility are chromosomal abnormalities and Y chromosomal microdeletions (YCMs). YCMs occur in approximately 15% of azoospermic patients and 10% of severe oligospermic patients. These microdeletions lead to spermatogenic failure.
This study aims to report the incidence of Azoospermia factor (AZF) microdeletions in Egyptian infertile males with severe oligoospermia & non obstructive azoospermia (NOA) using multiplex PCR.
One hundred-fifty infertile males were included. Semen analysis, hormonal assay, karyotyping, testicular sperm extraction and testicular biopsy were performed.Y chromosome microdeletions were detected by using multiplex polymerase chain reaction (PCR).
Among 150 infertile males; Considering Y chromosome; in severe oligospermic infertile males 3/36 (8.3%) had Y chromosome microdeletions in AZF subregions where; 1/3(33.3%) showed deletions in AZF-c and 2/3(66.7%) showed deletions in both AZF-b+c. However; no deletions were detected in AZF-a region in this group. In NOA group, 21/114(18.4%)  had Y chromsome microdeletions in AZF subregions where;  1/21 (4.8%)  showed deletions in AZF-b region, 2/21 (9.5%) showed deletion in both of AZF-a+b+c regions, 8/21 (38%) showed deletions in AZF-c region only and 10/21 (47.6%) showed deletions in both AZF-b+c regions.
Conclusion: The frequency of Y chromosome microdeletions in our studied patients was similar to many ethnic reports. Detection of AZF microdeletions is necessary for proper genetic diagnosis in infertile males. AZFc can help informed decisions regarding positive testicular sperm extraction outcome.
 
 
 
Keywords
Male infertility; Y chromosome microdeletions; AZF; NOA; TESE
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