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Molecular Detection of Y-Chromosome Micro Deletion Among Infertile Male Patients Attending Some Health Facilities in Selected States of Northwest, Nigeria

Ezekiel Dogo Bitet Abdulhadi Sale Kumurya Abubakar Aliyu Isah Ega Bawa Joseph Ajahbe

Subject area: Biological & Medical Sciences  ·  Area of research: Andrology/Health

Abstract

Background: The aim of the study was to molecularly detect Y chromosome micro-deletions among male infertile patients and established the prevalence of the Y chromosome micro-deletion and among the semen parameters. Methods: A total of 383 infertile males were studied for Y chromosome micro-deletions using multiplex PCR assay. Molecular analysis was performed on the seminal fluid. Results: Out of 383 infertile male patients, 46 (14.00%) had Y micro-deletions. One hundred seven of 765 (13.99%) non-obstructive azoospermic patients and 27 of 133 (20.30%) severe oligozoospermic patients had Y micro-deletions. Among the 134 infertile men with Y micro-deletions, the most frequent micro-deletions were detected in the AZFc region, followed by AZFbc, AZFb, AZFa, AZFabc(Yq), Yp(SRY)+Yq, and partial AZFc regions. Karyotype analysis was available for 130 of the 134 patients with Y micro-deletions. Of them, 36 (27.69%) patients had sex chromosomal abnormalities. Levels of FSH and LH in patients with AZFc micro-deletion were significantly lower, while those in patients with Yp(SRY)+Yq were significantly higher than in patients without Y micro-deletions. Level of testosterone in patients with AZFabc (Yq) or Yp (SRY)+Yq was significantly lower than that in patients without Y micro-deletions. However, there was no significant difference in the levels of reproductive hormones between all patients with and without Y micro-deletions. Conclusion: These results highlight the need for Y chromosome micro-deletion screening for correct diagnosis of male infertility. Obtaining reliable genetic information for assisted reproductive techniques can prevent unnecessary treatment and vertical transmission of genetic defects to offspring. Recommendation: Screening for Y-chromosome micro deletions is highly suggested in fertility clinics where assisted reproduction therapy (ART) viz; IVF etc are conducted to reduced rate of failure as a result of compromised sperm DNA integrity through Y- chromosome micro-deletions.

Keywords

Male infertility, oligoasthenoteratozoospermia, oligoasthenozoospermia, Severe Asthenozoospermia, Y chromosome micro-deletion, Northwest, Nigeria.

References

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How to cite this paper

Ezekiel Dogo Bitet, Abdulhadi Sale Kumurya, Abubakar Aliyu Isah, Ega Bawa, Joseph Ajahbe "Molecular Detection of Y-Chromosome Micro Deletion Among Infertile Male Patients Attending Some Health Facilities in Selected States of Northwest, Nigeria" Iconic Research And Engineering Journals Volume 8 Issue 8 2025 Page 152-158
Ezekiel Dogo Bitet, Abdulhadi Sale Kumurya, Abubakar Aliyu Isah, Ega Bawa, Joseph Ajahbe "Molecular Detection of Y-Chromosome Micro Deletion Among Infertile Male Patients Attending Some Health Facilities in Selected States of Northwest, Nigeria" Iconic Research And Engineering Journals, vol. 8, no. 8, Feb. 2025
Ezekiel Dogo Bitet, Abdulhadi Sale Kumurya, Abubakar Aliyu Isah, Ega Bawa, Joseph Ajahbe (2025). Molecular Detection of Y-Chromosome Micro Deletion Among Infertile Male Patients Attending Some Health Facilities in Selected States of Northwest, Nigeria. Iconic Research And Engineering Journals, 8(8).
Ezekiel Dogo Bitet, Abdulhadi Sale Kumurya, Abubakar Aliyu Isah, Ega Bawa, Joseph Ajahbe "Molecular Detection of Y-Chromosome Micro Deletion Among Infertile Male Patients Attending Some Health Facilities in Selected States of Northwest, Nigeria" Iconic Research And Engineering Journals, vol. 8, no. 8, Feb. 2025.
@article{1707053,
      author = {Ezekiel Dogo Bitet, Abdulhadi Sale Kumurya, Abubakar Aliyu Isah, Ega Bawa, Joseph Ajahbe},
      title = {Molecular Detection of Y-Chromosome Micro Deletion Among Infertile Male Patients Attending Some Health Facilities in Selected States of Northwest, Nigeria},
      journal = {Iconic Research And Engineering Journals},
      year = {2025},
      volume = {8},
      number = {8},
      pages = {152-158},
      issn = {2456-8880},
      url = {https://www.irejournals.com/formatedpaper/1707053.pdf},
      abstract = {Background: The aim of the study was to molecularly detect Y chromosome micro-deletions among male infertile patients and established the prevalence of the Y chromosome micro-deletion and among the semen parameters. Methods: A total of 383 infertile males were studied for Y chromosome micro-deletions using multiplex PCR assay. Molecular analysis was performed on the seminal fluid. Results: Out of 383 infertile male patients, 46 (14.00%) had Y micro-deletions. One hundred seven of 765 (13.99%) non-obstructive azoospermic patients and 27 of 133 (20.30%) severe oligozoospermic patients had Y micro-deletions. Among the 134 infertile men with Y micro-deletions, the most frequent micro-deletions were detected in the AZFc region, followed by AZFbc, AZFb, AZFa, AZFabc(Yq), Yp(SRY)+Yq, and partial AZFc regions. Karyotype analysis was available for 130 of the 134 patients with Y micro-deletions. Of them, 36 (27.69%) patients had sex chromosomal abnormalities. Levels of FSH and LH in patients with AZFc micro-deletion were significantly lower, while those in patients with Yp(SRY)+Yq were significantly higher than in patients without Y micro-deletions. Level of testosterone in patients with AZFabc (Yq) or Yp (SRY)+Yq was significantly lower than that in patients without Y micro-deletions. However, there was no significant difference in the levels of reproductive hormones between all patients with and without Y micro-deletions. Conclusion: These results highlight the need for Y chromosome micro-deletion screening for correct diagnosis of male infertility. Obtaining reliable genetic information for assisted reproductive techniques can prevent unnecessary treatment and vertical transmission of genetic defects to offspring. Recommendation: Screening for Y-chromosome micro deletions is highly suggested in fertility clinics where assisted reproduction therapy (ART) viz; IVF etc are conducted to reduced rate of failure as a result of compromised sperm DNA integrity through Y- chromosome micro-deletions.},
      keywords = {Male infertility, oligoasthenoteratozoospermia, oligoasthenozoospermia, Severe Asthenozoospermia, Y chromosome micro-deletion, Northwest, Nigeria.},
      month = {February},
  }