@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://article.sciencepublishinggroup.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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