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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
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
@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},
}