The genetic causes of infertility in patients with oligozoospermia and azoospermia in Turkish population-Reference-Cited by-同舟云学术

The genetic causes of infertility in patients with oligozoospermia and azoospermia in Turkish population

Published:2021-06-29 Issue:16-2 Volume:16 Page:159-164
ISSN:2687-1955
Container-title:Yeni Üroloji Dergisi
language:
Short-container-title:New J Urol

Author:

Danacıoglu Yavuz Onur¹^ORCID,Yenice Mustafa Gürkan¹^ORCID,Akkas Fatih²^ORCID,Soytas Mustafa³^ORCID,Seyhan Serhat⁴^ORCID,Tasci Ali İhsan¹^ORCID

Affiliation:

1. University of Health Sciences Bakirkoy Dr. Sadi Konuk Training and Research Hospital, Department of Urology, Istanbul, Turkey

2. University of Health Sciences Erzurum Training and Research Hospital, Department of Urology, Erzurum, Turkey

3. Medipol University, Department of Urology, Istanbul, Turkey

4. University of Health Sciences Bakirkoy Dr. Sadi Konuk Training and Research Hospital, Department of Medical Genetics, Istanbul, Turkey

Abstract

Objective: Advances in the science of genetics and the development of assisted reproductive techniques focus on the genetic causes of infertility. The aim of this research is to reveal genetic abnormalities in terms of sex chromosome aneuploidy and Y chromosome microdeletions. Material and Methods: A total of 350 patients with azoospermia or severe oligozoospermia were selected. After general examination of the patients and laboratory investigations were performed, cartoypes and Y chromosome microdeletions were examined. Results: A total of 225 infertile men with non-obstructive azoospermia (NOA) and 125 infertile men with oligozoospermia were enrolled into the study. The overall cytogenetic anomaly rate was 16%. Chromosomal changes were detected in 32 of 350 (9.1%) cases. The most common genetic anomaly was 47, XXY (Klinefelter syndrome) and the incidence was 11.5% in NOA group. This rate was 3.2% in oligozoospermia group. Y chromosome microdeletions were detected in 24 (6.8%) patients and similarly, it was observed more frequently in the NOA group than in the oligozoospermia group. Conclusion: The incidence of genetic causes have been increasing with the severity of infertility. As a result, genetic screening and appropriate genetic counseling are needed before the use of assisted reproductive techniques. Keywords: azospermia, chromosome, infertility, microdeletion, oligozoospermiaage

Publisher

Avrasya Uroonkoloji Dernegi

Reference26 articles.

1. 1. Hopps C, Mielnik A, Goldstein M, Palermo G, Rosenwaks Z, Schlegel P. Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb and AZFc regions. Human reproduction 2003;18:1660-5.

2. 2. De Kretser D, Baker H. Infertility in men: recent advances and continuing controversies. The Journal of Clinical Endocrinology & Metabolism 1999;84:3443-50.

3. 3. Krausz C, Riera-Escamilla A. Genetics of male infertility. Nature Reviews Urology 2018;15:369-84.

4. 4. Balkan M, Tekes S, Gedik A. Cytogenetic and Y chromosome microdeletion screening studies in infertile males with Oligozoospermia and Azoospermia in Southeast Turkey. Journal of assisted reproduction and genetics 2008;25:559-65.

5. 5. 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. Turkish journal of urology 2020;46:95.