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Y chromosome microdeletions as a cause for male infertility

Mariya Levkova, Trifon Chervenkov, Lyudmila Angelova

Abstract

Male infertility represents around half of all cases of infertility. The microdeletions of the azoospermia factor (AZF) region, located in the long arm of Y chromosome, are the second most common reason for reproductive problems among men. This genetic mutation results in low sperm count and fertility rate. The presence of Y microdeletions can lower the success rate of in vitro procedures and would be transmitted to the next generation. We have analyzed 30 articles about the connection between the deletions of the Y chromosome and the decreased sperm count. 25 of them confirm the role of this genetic mutation, while the rest do not, but they investigate only some AZF loci. The negative results could also be due to the different ethnic origin of the participants, difference between the research method and etc. Testing infertile men for Y chromosome deletions could lead to a major improvement in the options for treating infertility. Also, if such mutation is diagnosed, this is an indication for genetic counseling in order to avoid future fertility issues in the next generation. The review of the included articles proves the role of the Y chromosome microdeletions as a reason for male infertility and outlines the main principles when performing the genetic test for this mutation.

Keywords

molecular genetics, infertility, azoospermia factor (AZF), chromosome deletions

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DOI: http://dx.doi.org/10.14748/bmr.v29.5850

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About The Authors

Mariya Levkova
Medical University of Varna
Bulgaria

Department of Medical Genetics

Trifon Chervenkov
Medical University of Varna
Bulgaria

Department of Medical Genetics

Laboratory of Clinical Immunology, St Marina University Hospital, Varna, Bulgaria

Lyudmila Angelova
Medical University of Varna
Bulgaria

Department of Medical Genetics

Laboratory of Medical Genetics, St Marina University Hospital, Varna, Bulgaria

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