International Journal of Genetics and Genomics

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Y-Chromosome Microdeletion Screening in Senegalese Infertile Men

Received: Sep. 21, 2023    Accepted: Oct. 20, 2023    Published: Nov. 30, 2023
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Abstract

Background: Significant progress has been made in recent years towards understanding the pathogenesis of spermatogenic arrest and infertility. Genetic factors contribute to 10-15% of male infertility. After chromosomal abnormalities, Azoospermia factor (AZF) microdeletions in the Yq region are the second most prevalent spermatogenic disorder among infertile men. Our study aimed to assess rates of chromosomal abnormalities and AZF microdeletions in Senegalese men diagnosed with azoospermia and oligozoospermia. Methods: Twenty-three men with azoospermia and oligozoospermia were chosen for molecular studies. Blood samples were analyzed for karyotyping and identification of Y chromosome microdeletions. Multiplex polymerase chain reaction was used to identify the complete deletion of AZF using six Sequence-Tagged Sites (STSs) (sY84 and sY86 in the AZFa region, sY127 and sY134 in the AZFb region, and sY254 and sY255 in the AZFc region). Results: During karyotyping analysis, it was observed that no chromosomal abnormalities were present except for four patients who had Klinefelter syndrome (XXY or XY/XXY; XX/XXY mosaics). Furthermore, AZF microdeletions were detected, with the most common being in the AZFc region, followed by AZFa and AZFb. Ten patients (62.5%, 10/16) exhibited deletion of AZFc markers sY254 and sY255. Of these, two patients (20%, 2/10) had sY254 deletion, one patient (10%, 1/10) had sY255 deletion, and seven patients (70%, 7/10) had sY254 + sY255 deletion which was significantly related to azoospermic phenotype (80%, 8/10). Additionally, four patients (25%, 4/16) had deletion of AZFa at marker sY86 and this was linked to both azoospermic and oligozoospermic. Finally, two patients (12.5%, 2/1) exhibited deletion AZFb in marker sY127, which was associated solely with azoospermia. However, microdeletions of the Y chromosome were detected in four azoospermic patients with abnormal karyotype. Conclusions: Our study indicates the presence of abnormal chromosome and Y chromosome microdeletions in the infertile Senegalese men, suggesting that screening for these should be part of their diagnostic.

DOI 10.11648/j.ijgg.20231104.11
Published in International Journal of Genetics and Genomics ( Volume 11, Issue 4, December 2023 )
Page(s) 112-118
Creative Commons

This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.

Copyright

Copyright © The Author(s), 2024. Published by Science Publishing Group

Keywords

Male Infertility, Karyotype Analysis, AZF (Azoospermia Factor) Deletions

References
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  • APA Style

    Diallo, A. D., Ndiaye, A., Gueye, F. D., Diop, N., Ndiaye, R., et al. (2023). Y-Chromosome Microdeletion Screening in Senegalese Infertile Men. International Journal of Genetics and Genomics, 11(4), 112-118. https://doi.org/10.11648/j.ijgg.20231104.11

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    Diallo, A. D.; Ndiaye, A.; Gueye, F. D.; Diop, N.; Ndiaye, R., et al. Y-Chromosome Microdeletion Screening in Senegalese Infertile Men. Int. J. Genet. Genomics 2023, 11(4), 112-118. doi: 10.11648/j.ijgg.20231104.11

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    AMA Style

    Diallo AD, Ndiaye A, Gueye FD, Diop N, Ndiaye R, et al. Y-Chromosome Microdeletion Screening in Senegalese Infertile Men. Int J Genet Genomics. 2023;11(4):112-118. doi: 10.11648/j.ijgg.20231104.11

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  • @article{10.11648/j.ijgg.20231104.11,
      author = {Adji Dieynaba Diallo and Arame Ndiaye and Fatou Diop Gueye and Ndiaga Diop and Rokhaya Ndiaye and Amath Thiam and Abdoulaye Sega Diallo and Mame Venus Gueye and Mama Sy Diallo and Oumar Faye},
      title = {Y-Chromosome Microdeletion Screening in Senegalese Infertile Men},
      journal = {International Journal of Genetics and Genomics},
      volume = {11},
      number = {4},
      pages = {112-118},
      doi = {10.11648/j.ijgg.20231104.11},
      url = {https://doi.org/10.11648/j.ijgg.20231104.11},
      eprint = {https://download.sciencepg.com/pdf/10.11648.j.ijgg.20231104.11},
      abstract = {Background: Significant progress has been made in recent years towards understanding the pathogenesis of spermatogenic arrest and infertility. Genetic factors contribute to 10-15% of male infertility. After chromosomal abnormalities, Azoospermia factor (AZF) microdeletions in the Yq region are the second most prevalent spermatogenic disorder among infertile men. Our study aimed to assess rates of chromosomal abnormalities and AZF microdeletions in Senegalese men diagnosed with azoospermia and oligozoospermia. Methods: Twenty-three men with azoospermia and oligozoospermia were chosen for molecular studies. Blood samples were analyzed for karyotyping and identification of Y chromosome microdeletions. Multiplex polymerase chain reaction was used to identify the complete deletion of AZF using six Sequence-Tagged Sites (STSs) (sY84 and sY86 in the AZFa region, sY127 and sY134 in the AZFb region, and sY254 and sY255 in the AZFc region). Results: During karyotyping analysis, it was observed that no chromosomal abnormalities were present except for four patients who had Klinefelter syndrome (XXY or XY/XXY; XX/XXY mosaics). Furthermore, AZF microdeletions were detected, with the most common being in the AZFc region, followed by AZFa and AZFb. Ten patients (62.5%, 10/16) exhibited deletion of AZFc markers sY254 and sY255. Of these, two patients (20%, 2/10) had sY254 deletion, one patient (10%, 1/10) had sY255 deletion, and seven patients (70%, 7/10) had sY254 + sY255 deletion which was significantly related to azoospermic phenotype (80%, 8/10). Additionally, four patients (25%, 4/16) had deletion of AZFa at marker sY86 and this was linked to both azoospermic and oligozoospermic. Finally, two patients (12.5%, 2/1) exhibited deletion AZFb in marker sY127, which was associated solely with azoospermia. However, microdeletions of the Y chromosome were detected in four azoospermic patients with abnormal karyotype. Conclusions: Our study indicates the presence of abnormal chromosome and Y chromosome microdeletions in the infertile Senegalese men, suggesting that screening for these should be part of their diagnostic.
    },
     year = {2023}
    }
    

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  • TY  - JOUR
    T1  - Y-Chromosome Microdeletion Screening in Senegalese Infertile Men
    AU  - Adji Dieynaba Diallo
    AU  - Arame Ndiaye
    AU  - Fatou Diop Gueye
    AU  - Ndiaga Diop
    AU  - Rokhaya Ndiaye
    AU  - Amath Thiam
    AU  - Abdoulaye Sega Diallo
    AU  - Mame Venus Gueye
    AU  - Mama Sy Diallo
    AU  - Oumar Faye
    Y1  - 2023/11/30
    PY  - 2023
    N1  - https://doi.org/10.11648/j.ijgg.20231104.11
    DO  - 10.11648/j.ijgg.20231104.11
    T2  - International Journal of Genetics and Genomics
    JF  - International Journal of Genetics and Genomics
    JO  - International Journal of Genetics and Genomics
    SP  - 112
    EP  - 118
    PB  - Science Publishing Group
    SN  - 2376-7359
    UR  - https://doi.org/10.11648/j.ijgg.20231104.11
    AB  - Background: Significant progress has been made in recent years towards understanding the pathogenesis of spermatogenic arrest and infertility. Genetic factors contribute to 10-15% of male infertility. After chromosomal abnormalities, Azoospermia factor (AZF) microdeletions in the Yq region are the second most prevalent spermatogenic disorder among infertile men. Our study aimed to assess rates of chromosomal abnormalities and AZF microdeletions in Senegalese men diagnosed with azoospermia and oligozoospermia. Methods: Twenty-three men with azoospermia and oligozoospermia were chosen for molecular studies. Blood samples were analyzed for karyotyping and identification of Y chromosome microdeletions. Multiplex polymerase chain reaction was used to identify the complete deletion of AZF using six Sequence-Tagged Sites (STSs) (sY84 and sY86 in the AZFa region, sY127 and sY134 in the AZFb region, and sY254 and sY255 in the AZFc region). Results: During karyotyping analysis, it was observed that no chromosomal abnormalities were present except for four patients who had Klinefelter syndrome (XXY or XY/XXY; XX/XXY mosaics). Furthermore, AZF microdeletions were detected, with the most common being in the AZFc region, followed by AZFa and AZFb. Ten patients (62.5%, 10/16) exhibited deletion of AZFc markers sY254 and sY255. Of these, two patients (20%, 2/10) had sY254 deletion, one patient (10%, 1/10) had sY255 deletion, and seven patients (70%, 7/10) had sY254 + sY255 deletion which was significantly related to azoospermic phenotype (80%, 8/10). Additionally, four patients (25%, 4/16) had deletion of AZFa at marker sY86 and this was linked to both azoospermic and oligozoospermic. Finally, two patients (12.5%, 2/1) exhibited deletion AZFb in marker sY127, which was associated solely with azoospermia. However, microdeletions of the Y chromosome were detected in four azoospermic patients with abnormal karyotype. Conclusions: Our study indicates the presence of abnormal chromosome and Y chromosome microdeletions in the infertile Senegalese men, suggesting that screening for these should be part of their diagnostic.
    
    VL  - 11
    IS  - 4
    ER  - 

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Author Information
  • Clinical Cytology, Cytogenetics, Reproductive Biology and Human Development Laboratory, Aristide Le Dantec Hospital, Dakar, Senegal; Doctoral School of Life, Health and Environmental Sciences, ED-SEV, Biology and Human Pathologies, Faculty of Medicine, Pharmacy and Odontology, Cheikh Anta Diop University, Dakar, Senegal

  • Clinical Cytology, Cytogenetics, Reproductive Biology and Human Development Laboratory, Aristide Le Dantec Hospital, Dakar, Senegal

  • Clinical Cytology, Cytogenetics, Reproductive Biology and Human Development Laboratory, Aristide Le Dantec Hospital, Dakar, Senegal; Doctoral School of Life, Health and Environmental Sciences, ED-SEV, Biology and Human Pathologies, Faculty of Medicine, Pharmacy and Odontology, Cheikh Anta Diop University, Dakar, Senegal

  • Clinical Cytology, Cytogenetics, Reproductive Biology and Human Development Laboratory, Aristide Le Dantec Hospital, Dakar, Senegal; Doctoral School of Life, Health and Environmental Sciences, ED-SEV, Biology and Human Pathologies, Faculty of Medicine, Pharmacy and Odontology, Cheikh Anta Diop University, Dakar, Senegal; Histology-Embryology-Cytogenetics Laboratory, Department of Biology and Functional Explorations, Faculty of Medicine, Pharmacy and Odontology, Cheikh Anta Diop University, Dakar, Senegal

  • Clinical Cytology, Cytogenetics, Reproductive Biology and Human Development Laboratory, Aristide Le Dantec Hospital, Dakar, Senegal; Immunogenetic Laboratory Faculty of Medicine, Pharmacy and Odontology, Cheikh Anta Diop University, Dakar, Senegal

  • Urology Department, Ouakam Military Hospital, Dakar, Senegal

  • Clinical Cytology, Cytogenetics, Reproductive Biology and Human Development Laboratory, Aristide Le Dantec Hospital, Dakar, Senegal; Histology-Embryology-Cytogenetics Laboratory, Department of Biology and Functional Explorations, Faculty of Medicine, Pharmacy and Odontology, Cheikh Anta Diop University, Dakar, Senegal

  • Clinical Cytology, Cytogenetics, Reproductive Biology and Human Development Laboratory, Aristide Le Dantec Hospital, Dakar, Senegal; Doctoral School of Life, Health and Environmental Sciences, ED-SEV, Biology and Human Pathologies, Faculty of Medicine, Pharmacy and Odontology, Cheikh Anta Diop University, Dakar, Senegal; Histology-Embryology-Cytogenetics Laboratory, Department of Biology and Functional Explorations, Faculty of Medicine, Pharmacy and Odontology, Cheikh Anta Diop University, Dakar, Senegal

  • Clinical Cytology, Cytogenetics, Reproductive Biology and Human Development Laboratory, Aristide Le Dantec Hospital, Dakar, Senegal; Histology-Embryology-Cytogenetics Laboratory, Department of Biology and Functional Explorations, Faculty of Medicine, Pharmacy and Odontology, Cheikh Anta Diop University, Dakar, Senegal

  • Clinical Cytology, Cytogenetics, Reproductive Biology and Human Development Laboratory, Aristide Le Dantec Hospital, Dakar, Senegal; Histology-Embryology-Cytogenetics Laboratory, Department of Biology and Functional Explorations, Faculty of Medicine, Pharmacy and Odontology, Cheikh Anta Diop University, Dakar, Senegal

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