Summary: | Background and objectives: Recent investigations have reported more
than 70 genetic syndromes involved in male infertility; however, the majority of
these syndromes are extremely rare. We aimed to report the most common
chromosomal abnormalities and associated rare genetic syndromes in the context of
human male infertility.
Materials and Methods: We performed a review of published articles
considering the most common chromosomal aneuploidies and rare genetic syndromes
associated with male infertility on PubMed, Web of Science, and Scopus.
Results: Chromosomal abnormalities are frequently found in
infertile men, with an incidence rate of 2-15%. The chromosomal aberrations
include the sex and autosomal chromosome abnormalities, as well as numerical and
structural defects in chromosomes. There are various rare genetic syndromes
involved in male infertility that are caused by structural and numerical
abnormalities in chromosomes. Klinefelter syndrome is the most common type of sex
chromosome aneuploidy in infertile males. Besides, Y chromosome microdeletions,
particularly in azoospermia factor regions, serve as the second most common
genetic cause of impaired spermatogenetic in infertile men. These molecular
genetic abnormalities not only can be inherited, but also they may transmit to
the next generation through assisted reproductive techniques and result in the
birth of boys with higher risk of congenital abnormalities and infertility.
Despite the normal secondary male sexual characteristics, some patients are
azoospermic or severe oligozoospermic men. Therefore, identification of these
molecular genetic factors and rare genetic disorders is essential in men with
unexplained infertility.
Discussion and conclusion: Since most of molecular genetic
abnormalities can be transmitted to the next generation, identification of these
rare genetic disorders is crucial for men with unexplained infertility. It is
also essential for clinicians and physicians of reproductive medicine and
andrologists to initiate genetic evaluation, aneuploidy screening and counseling
prior to any therapeutic procedures.
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