head JofIMAB
Journal of IMAB - Annual Proceeding (Scientific Papers)
Publisher: Peytchinski Publishing
ISSN: 1312-773X (Online)
Issue: 2018, vol. 24, issue4
Subject Area: Medicine
DOI: 10.5272/jimab.2018244.2217
Published online: 23 October 2018

Original article

J of IMAB. 2018 Oct-Dec;24(4):2217-2222
Katya Kovacheva1ORCID logo Corresponding Autoremail, Rumen Kotsev2ORCID logo, Emiliana Konova3ORCID logo, Violeta Rilcheva3ORCID logo, Zornitsa Kamburova1ORCID logo, Maria Simeonova1ORCID logo,
1) Section of Medical Genetics, Medical University, Pleven, University Hospital, Pleven, Bulgaria.
2) Clinic of Urology, Medical University, Pleven, University Hospital, Pleven, Bulgaria.
3) MC CIRM, Pleven, Bulgaria.

Male infertility is a complex disease, and genetic abnormalities are among the main causal factors for the disorder. Aim: In order to evaluate the proportion of the most common genetic factors in etiology of male infertility, examination for chromosomal abnormalities and microdeletions of Yq chromosome (delYq) was carried out in Bulgarian males with severe infertility.
Materials and methods: The study was retrospective and involved a total of 142 infertile Bulgarian males (63 patients with azoospermia and 79 patients with severe oligozoospermia /sperm count < 5×106/ml), referred (2007-2016) for genetic testing, after preliminary examinations to exclude some more frequent causes for male infertility. Cytogenetic analysis by GTG-banding was carried out in 137 men, and molecular testing for AZF region microdeletions of Y chromosome by multiplex PCR was carried out in 109 men.
Results: Chromosomal abnormalities were found in 16.8% of all investigated infertile men and the frequencies in patient subgroups with azoospermia and oligozoospermia were 20.7% (12/58) and 13.9% (11/79) respectively. The established frequency of delYq was 5.5% (6/109) in the overall group of infertile male and higher - 9.5% (6/63) in a subgroup of patients with azoospermia.The overall proportion of the two genetic factors was 30.2% in patients with azoospermia and 14% in men with oligozoospermia. In conclusion, chromosomal abnormalities and delYq account for about 22% of cases with severe infertility in Bulgarian men. Genetic testing should be a routine part of examinations in infertile males and along with genetic counseling; they provide an opportunity for the best choice of an appropriate technique for assisted reproduction of the couples.

Keywords: male infertility, genetic causes, chromosomal abnormalities, Y chromosome microdeletions,

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Please cite this article as: Kovacheva K, Kotsev R, Konova E, Rilcheva V, Kamburova Z, Simeonova M. Chromosomal abnormalities and Y chromosome microdeletions in Bulgarian male with azoospermia or severe oligospermia. J of IMAB. 2018 Oct-Dec;24(4):2217-2222. DOI: 10.5272/jimab.2018244.2217

Corresponding AutorCorrespondence to: Assoc. Prof. Katya Kovacheva, MD, PhD, Section of Medical Genetics, Medical University, Pleven; 1, St. Kliment Ohridski str., 5800 Pleven, Bulgaria; E-mail: katiakovach@gmail.com

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Received: 27 June 2018
Published online: 23 October 2018

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