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Prevalence of Y chromosome microdeletions of the azoospermia factor region among Libyan men with infertility

  • Authors:
    • Sassia O. Regeai
    • Abdul Hakim S. Elnfati
    • Nuzha M. Alomrani
    • Afaf Shibane
    • Salem Ahlees
    • Osama Almajdoub
    • Ibrahim Ginaw
    • Mohamed Abdusalam
    • Ashraf Zaied
    • Inas M. Alhudiri
    • Adem I. Elzagheid
  • View Affiliations / Copyright

    Affiliations: Department of Histology and Genetics, Faculty of Medicine, University of Tripoli, Tripoli, Libya, Department of Zoology, Faculty of Science, University of Tripoli, Tripoli, Libya, Department of Genetic Engineering, Libyan Biotechnology Research Center, Tripoli, Libya, Nour Al‑Hayat Fertility Clinic, Tripoli, Libya, Al Khalil Hospital, Tripoli, Libya
    Copyright: © Regeai et al. This is an open access article distributed under the terms of Creative Commons Attribution License [CC BY 4.0].
  • Article Number: 41
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    Published online on: May 26, 2026
       https://doi.org/10.3892/mi.2026.325
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Abstract

The detection of Y chromosome microdeletions (YCMDs) in the azoospermia factor (AZF) region is a critical diagnostic tool for male infertility. The present study aimed to determine the prevalence of YCMDs among Libyan men with infertility following the European Academy of Andrology (EAA) and the European Molecular Genetics Quality Network (EMQN) guidelines. The present descriptive cross‑sectional study included 41 men with infertility, stratified into two primary groups for comparative analysis: One group with azoospermia (n=23) and a non‑azoospermia group (n=18). Genetic screening for AZFa, AZFb and AZFc microdeletions was performed using multiplex PCR with standardized sequence‑tagged site primers (sY84, sY127, sY254, sY86, sY134 and sY255). Hormonal profiles, including follicle stimulating hormone (FSH), luteinizing hormone (LH), testosterone (T) and prolactin (PRL), as well as their ratios, were evaluated. The overall prevalence of YCMDs was 2.44% (1/41; 95% confidence interval, 0.06‑12.79%). A single case of a complete AZFb+c microdeletion was identified in a patient with azoospermia. The azoospermia group exhibited significantly higher mean FSH (P<0.001) and LH levels (P<0.01) than those of the non‑azoospermia group. The azoospermia group demonstrated a suppressed LH/FSH ratio (0.61) and a reduced T/LH ratio (0.37), indicating testicular failure and compensated Leydig cell dysfunction, respectively. To the best of our knowledge, the present study represents the first investigation in Tripoli, Libya, to report the prevalence of YCMDs in accordance with the EAA/EMQN international standards. Future large‑scale, multicenter studies incorporating larger cohorts, fertile control groups, and broader geographic representations, are essential to establish a comprehensive genetic landscape of male infertility in Libya.
View Figures

Figure 1

Representative real-time multiplex
PCR amplification curves for AZF regions. Real-time-PCR plots
illustrating the presence of intact genomic sequences for the
azoospermia factor regions in 6 patients with infertility. Positive
amplification is characterized by sigmoidal curves, indicating the
presence of tested sequence tagged sites. Fluorescence channels
represent specific target regions: JOE/HEX/yellow (internal
control), FAM/green (AZFa), ROX/orange (AZFb), and Cy5/red (AZFc).
The Y-axis represents relative fluorescence units (RFU) and the
X-axis denotes the cycle number (Cq).

Figure 2

Real-time multiplex PCR profile
illustrating a complete AZFb+c microdeletion. Amplification profile
of a 29-year-old patient with azoospermia, identified with a
complete deletion across the AZFb and AZFc subregions. While the
JOE/HEX/yellow (internal control) and FAM/green (AZFa) channels
show successful sigmoidal amplification, the flat baselines in the
ROX/orange (AZFb) and Cy5/red (AZFc) channels confirm the absence
of specific sequence tagged sites (sY127, sY134, sY254 and sY255).
This molecular genetic profile is a hallmark of definitive
spermatogenic failure. The Y-axis represents relative fluorescence
units (RFU) and the X-axis denotes the cycle number (Cq).

Figure 3

Scatter plots representing Pearson's
correlation analysis of hormonal and clinical parameters. (A)
Scatter plot displaying the moderate negative correlation (r=-0.56)
between the T/FSH ratio and FSH levels; which supports the study
finding that higher FSH levels are associated with a significant
decline in the T/FSH ratio, characteristic of primary testicular
failure. (B) Scatter plot displaying the negligible negative
correlation (r=-0.12) between patient age and testosterone levels.
These scatter plots confirm that hormonal imbalances in this cohort
were driven by spermatogenic status rather than age. Solid lines
represent the linear regression fit. FSH, follicle stimulating
hormone; T, testosterone.
View References

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Copy and paste a formatted citation
Spandidos Publications style
Regeai SO, Elnfati AS, Alomrani NM, Shibane A, Ahlees S, Almajdoub O, Ginaw I, Abdusalam M, Zaied A, Alhudiri IM, Alhudiri IM, et al: Prevalence of Y chromosome microdeletions of the azoospermia factor region among Libyan men with infertility. Med Int 6: 41, 2026.
APA
Regeai, S.O., Elnfati, A.S., Alomrani, N.M., Shibane, A., Ahlees, S., Almajdoub, O. ... Elzagheid, A.I. (2026). Prevalence of Y chromosome microdeletions of the azoospermia factor region among Libyan men with infertility. Medicine International, 6, 41. https://doi.org/10.3892/mi.2026.325
MLA
Regeai, S. O., Elnfati, A. S., Alomrani, N. M., Shibane, A., Ahlees, S., Almajdoub, O., Ginaw, I., Abdusalam, M., Zaied, A., Alhudiri, I. M., Elzagheid, A. I."Prevalence of Y chromosome microdeletions of the azoospermia factor region among Libyan men with infertility". Medicine International 6.4 (2026): 41.
Chicago
Regeai, S. O., Elnfati, A. S., Alomrani, N. M., Shibane, A., Ahlees, S., Almajdoub, O., Ginaw, I., Abdusalam, M., Zaied, A., Alhudiri, I. M., Elzagheid, A. I."Prevalence of Y chromosome microdeletions of the azoospermia factor region among Libyan men with infertility". Medicine International 6, no. 4 (2026): 41. https://doi.org/10.3892/mi.2026.325
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Spandidos Publications style
Regeai SO, Elnfati AS, Alomrani NM, Shibane A, Ahlees S, Almajdoub O, Ginaw I, Abdusalam M, Zaied A, Alhudiri IM, Alhudiri IM, et al: Prevalence of Y chromosome microdeletions of the azoospermia factor region among Libyan men with infertility. Med Int 6: 41, 2026.
APA
Regeai, S.O., Elnfati, A.S., Alomrani, N.M., Shibane, A., Ahlees, S., Almajdoub, O. ... Elzagheid, A.I. (2026). Prevalence of Y chromosome microdeletions of the azoospermia factor region among Libyan men with infertility. Medicine International, 6, 41. https://doi.org/10.3892/mi.2026.325
MLA
Regeai, S. O., Elnfati, A. S., Alomrani, N. M., Shibane, A., Ahlees, S., Almajdoub, O., Ginaw, I., Abdusalam, M., Zaied, A., Alhudiri, I. M., Elzagheid, A. I."Prevalence of Y chromosome microdeletions of the azoospermia factor region among Libyan men with infertility". Medicine International 6.4 (2026): 41.
Chicago
Regeai, S. O., Elnfati, A. S., Alomrani, N. M., Shibane, A., Ahlees, S., Almajdoub, O., Ginaw, I., Abdusalam, M., Zaied, A., Alhudiri, I. M., Elzagheid, A. I."Prevalence of Y chromosome microdeletions of the azoospermia factor region among Libyan men with infertility". Medicine International 6, no. 4 (2026): 41. https://doi.org/10.3892/mi.2026.325
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