Prevalence and clinical considerations of Y chromosome microdeletions in azoospermic and oligozoopsermic infertile men from Al Madinah Al Munawarah, Saudi Arabia

Monis B. Shamsi, From the Center for Genetics and Inherited Diseases (Shamsi, Balahmar, Zaytuni, Alharbi, Latif); from the Department of Basic Medical Sciences (Shamsi, Imam, Latif); from the Department of General and Specialized Surgery (Rajih), College of Medicine, Taibah University, Al-Madinah Al-Munawarah, Kingdom of Saudi Arabia, from the Department of Anatomy (Dada), Laboratory of Molecular Reproduction & Genetics, All India Institute of Medical Sciences, New Delhi, India, and from the Department of Translational Neuroscience (Ahmad), Barrow Neurological Institute, Phoenix, United States of America.
Rima Dada, From the Center for Genetics and Inherited Diseases (Shamsi, Balahmar, Zaytuni, Alharbi, Latif); from the Department of Basic Medical Sciences (Shamsi, Imam, Latif); from the Department of General and Specialized Surgery (Rajih), College of Medicine, Taibah University, Al-Madinah Al-Munawarah, Kingdom of Saudi Arabia, from the Department of Anatomy (Dada), Laboratory of Molecular Reproduction & Genetics, All India Institute of Medical Sciences, New Delhi, India, and from the Department of Translational Neuroscience (Ahmad), Barrow Neurological Institute, Phoenix, United States of America.
Reham M. Balahmar, From the Center for Genetics and Inherited Diseases (Shamsi, Balahmar, Zaytuni, Alharbi, Latif); from the Department of Basic Medical Sciences (Shamsi, Imam, Latif); from the Department of General and Specialized Surgery (Rajih), College of Medicine, Taibah University, Al-Madinah Al-Munawarah, Kingdom of Saudi Arabia, from the Department of Anatomy (Dada), Laboratory of Molecular Reproduction & Genetics, All India Institute of Medical Sciences, New Delhi, India, and from the Department of Translational Neuroscience (Ahmad), Barrow Neurological Institute, Phoenix, United States of America.
Dimah Zaytuni, From the Center for Genetics and Inherited Diseases (Shamsi, Balahmar, Zaytuni, Alharbi, Latif); from the Department of Basic Medical Sciences (Shamsi, Imam, Latif); from the Department of General and Specialized Surgery (Rajih), College of Medicine, Taibah University, Al-Madinah Al-Munawarah, Kingdom of Saudi Arabia, from the Department of Anatomy (Dada), Laboratory of Molecular Reproduction & Genetics, All India Institute of Medical Sciences, New Delhi, India, and from the Department of Translational Neuroscience (Ahmad), Barrow Neurological Institute, Phoenix, United States of America.
Ghadeer Alharbi, From the Center for Genetics and Inherited Diseases (Shamsi, Balahmar, Zaytuni, Alharbi, Latif); from the Department of Basic Medical Sciences (Shamsi, Imam, Latif); from the Department of General and Specialized Surgery (Rajih), College of Medicine, Taibah University, Al-Madinah Al-Munawarah, Kingdom of Saudi Arabia, from the Department of Anatomy (Dada), Laboratory of Molecular Reproduction & Genetics, All India Institute of Medical Sciences, New Delhi, India, and from the Department of Translational Neuroscience (Ahmad), Barrow Neurological Institute, Phoenix, United States of America.
Syed N. Imam, From the Center for Genetics and Inherited Diseases (Shamsi, Balahmar, Zaytuni, Alharbi, Latif); from the Department of Basic Medical Sciences (Shamsi, Imam, Latif); from the Department of General and Specialized Surgery (Rajih), College of Medicine, Taibah University, Al-Madinah Al-Munawarah, Kingdom of Saudi Arabia, from the Department of Anatomy (Dada), Laboratory of Molecular Reproduction & Genetics, All India Institute of Medical Sciences, New Delhi, India, and from the Department of Translational Neuroscience (Ahmad), Barrow Neurological Institute, Phoenix, United States of America.
Emad Rajih, From the Center for Genetics and Inherited Diseases (Shamsi, Balahmar, Zaytuni, Alharbi, Latif); from the Department of Basic Medical Sciences (Shamsi, Imam, Latif); from the Department of General and Specialized Surgery (Rajih), College of Medicine, Taibah University, Al-Madinah Al-Munawarah, Kingdom of Saudi Arabia, from the Department of Anatomy (Dada), Laboratory of Molecular Reproduction & Genetics, All India Institute of Medical Sciences, New Delhi, India, and from the Department of Translational Neuroscience (Ahmad), Barrow Neurological Institute, Phoenix, United States of America.
Muhammad Latif, From the Center for Genetics and Inherited Diseases (Shamsi, Balahmar, Zaytuni, Alharbi, Latif); from the Department of Basic Medical Sciences (Shamsi, Imam, Latif); from the Department of General and Specialized Surgery (Rajih), College of Medicine, Taibah University, Al-Madinah Al-Munawarah, Kingdom of Saudi Arabia, from the Department of Anatomy (Dada), Laboratory of Molecular Reproduction & Genetics, All India Institute of Medical Sciences, New Delhi, India, and from the Department of Translational Neuroscience (Ahmad), Barrow Neurological Institute, Phoenix, United States of America.
Saif Ahmad, From the Center for Genetics and Inherited Diseases (Shamsi, Balahmar, Zaytuni, Alharbi, Latif); from the Department of Basic Medical Sciences (Shamsi, Imam, Latif); from the Department of General and Specialized Surgery (Rajih), College of Medicine, Taibah University, Al-Madinah Al-Munawarah, Kingdom of Saudi Arabia, from the Department of Anatomy (Dada), Laboratory of Molecular Reproduction & Genetics, All India Institute of Medical Sciences, New Delhi, India, and from the Department of Translational Neuroscience (Ahmad), Barrow Neurological Institute, Phoenix, United States of America.

Document Type

Article

Abstract

OBJECTIVES: To characterize the potential role of Y-chromosome microdeletion (YCM) as a genetic cause for infertility in the Arab population from the Al Madinah Al Munawarah. METHODS: We screened 97 infertile men from Al Madinah Al Munawarah, from February 2022 to March 2024. Genomic blood DNA was analyzed for 8 sequence tagged site (STS) markers of Y chromosome by multiplex polymerase chain reaction. RESULTS: We found microdeletions in 3 infertile men, indicating a prevalence of 3.1%. The STS markers sY254 and sY255 corresponding to AZFc regions were deleted in these men. No deletion was observed in any other STS markers investigated in this study. CONCLUSION: Our findings for prevalence in Arab population of Al Madinah Al Munawarah is comparable to other studies from Saudi Arabia. However, large variance in the prevalence of YCM in the Arab population of other Middle Eastern countries is reportedly observed. The YCM has significant prognostic value, since it indicates the spermatogenic profile, the success probability of assisted reproduction technique (ART) procedures as testicular sperm extraction and apprise of potential risk of vertical transmission of microdeletion from father to son in patients opting for ART. With these considerations, we re-emphasize the need for genetic screening of YCM in azoo- and oligozoospermic infertile men.

Keywords

STS markers, Y chromosome microdeletions, azoospermia, male infertility, oligozoospermia

Medical Subject Headings

Humans; Male; Saudi Arabia (epidemiology); Chromosome Deletion; Sex Chromosome Disorders of Sex Development (epidemiology, genetics); Chromosomes, Human, Y (genetics); Oligospermia (genetics, epidemiology); Prevalence; Infertility, Male (genetics, epidemiology); Azoospermia (genetics, epidemiology); Adult; Sex Chromosome Aberrations; Sequence Tagged Sites

Publication Date

2-1-2025

Publication Title

Saudi medical journal

E-ISSN

1658-3175

Volume

46

Issue

2

First Page

124

Last Page

130

PubMed ID

39933777

Digital Object Identifier (DOI)

10.15537/smj.2025.46.2.20240764

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