Turkish Journal of Urology
ANDROLOGY - Original Article

Evaluation of chromosomal abnormalities and Y-chromosome microdeletions in 1696 Turkish cases with primary male infertility: A single-center study

1.

Genetic Diagnostic Center, Health Sciences University, İzmir Tepecik Training and Research Hospital, İzmir, Turkey

2.

Department of Urology, Health Sciences University, İzmir Tepecik Training and Research Hospital, İzmir, Turkey

3.

Department of Histology and Embryology, Health Sciences University, İzmir Tepecik Training and Research Hospital, İzmir, Turkey

Turk J Urol 2020; 46: 95-100
DOI: 10.5152/tud.2019.19156
Read: 866 Downloads: 164 Published: 03 December 2019

Objective: The aim of this study was to determine the frequencies of chromosomal abnormalities and Y-chromosome microdeletions in Turkish cases with primary male infertility in a single center.

Material and methods: Chromosomal abnormalities and Y-chromosome microdeletions were investigated in 1696 cases with primary male infertility between 2012 and 2017. Karyotype analyzes and Y-chromosome microdeletions analyzes [azoospermia factor (AZF) regions] were performed in all cases by using standard cytogenetic methods and the multiplex polymerase chain reaction method, respectively.

Results: Chromosomal abnormalities were found in 142 cases (8.4%; 142/1696). Y-chromosome microdeletions were detected in 46 cases (2.7%; 46/1696). Y-chromosome microdeletions in the AZFc region were found in 20 of 46 cases (43%).

Conclusion: This study is one of the few were a large number of cases was studied in Turkey. It indicates that cytogenetic and Y-chromosome microdeletion studies should be conducted in cases with primary male infertility prior to selecting assisted reproductive techniques.

Cite this article as: Özdemir TR, Özyılmaz B, Çakmak Ö, Kaya ÖÖ, Köse C, Kırbıyık Ö, et al. Evaluation of chromosomal abnormalities and Y-chromosome microdeletions in 1696 Turkish cases with primary male infertility: A single-center study. Turk J Urol 2020; 46(2): 95-100.

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ISSN2149-3235 EISSN 2149-3057