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Introduction
Infertility, considered as one of the main public health issues, afects
about 10%-15% of the couples in reproductive age. Male factors are
known to be responsible for 50% of all infertilities. It is well-established
that the chromosomal abnormality is more prevalent in infertile men
than in fertile men.
1
In developed countries, the incidence factor is
considered to be less, when compared to underdeveloped countries.
2
Male factor infertility includes chromosome and gene abnormalities,
hormonal problems, genital infections, chemical and physical agents,
varicose, genito-urinary obstruction, testicular dysfunction, etc.
In addition, genetic abnormalities are suspected to result in male
infertilities in about one-third of the cases, referred to as idiopathic.
There is a clear correlation between genetic abnormalities and
infertility; some chromosomal aberrations are inherited, while others
result from de novo mutations. This can lead to the reduction or
even loss in sperm production. Importantly, the latter may result in
a chromosomally-abnormal zygote, leading to either fetal death or
the birth of an abnormal child.
3
It should be noted that the primary
mutational event in the stem cells could arise from structural
abnormalities, including deletions, translocations or inversions,
during mitotic and meiotic divisions.
4
Male infertility work up
is a complex process that should include a past medical history,
physical examination, hormonal assay, semen count and analysis
and karyotype.
5
It is rather established that there is an increase in
the frequency of chromosomal abnormalities in infertile men, as
compared to fertile men. Because there are various procedures for
the cytogenetic analysis as well as clinically-heterogeneous patients,
most studies have reported a wide range of chromosomal abnormal
frequencies, ranging from 5.9 to 17.1%, as shown in Table 2.
6–12
In this
light, the present study was mainly aimed to investigate the possible
cytogenetic abnormalities that result in azoospermia and oligospermia
in infertile men.
Materials and methods
A total of 433 patients with infertility problems were included in
this cross-sectional study, and assessed retrospectively. All these cases,
referred to Molecular Pathology and Cytogenetic ward of Department
of Pathology, Shiraz University of Medical Science, Iran, during the
3-year period from June 2011 to August 2014, were included in the
fnal analysis, except for patients without metaphase or karyotype
information. The patients’ age varied between 18 and 60 years old,
with a mean age of 33.6 years old. Ethical approval was obtained
from the Local Research Ethics Committee of Shiraz University of
Medical Sciences; written informed consent was obtained from all
study participants prior to enrolment into the study. The patients were
divided into two groups, the Azoospermic group with the absence of
sperm cells, and oligozoospermic group with sperm concentration of
less than 20 million/ml. The incidence of chromosomal abnormalities
was investigated by the G banding method in azoospermic and
oligospermic infertile men. (Azoospermic group with 169 cases and
oligospermic group with 264 cases). Although the chromosomal
abnormalities exhibited various patterns in the oligozoospermia and
azoospermia patients, the fndings demonstrated that an increase in
J Cancer Prev Curr Res. 2016;6(3):479‒482. 479
©2016 Rekabi et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which
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Cytogenetic analysis in infertile male patients with
oligospermia and azoospermia in the southern
region of Iran, Shiraz
Volume 6 Issue 3 - 2016
Vahab Rekabi,
1,2
Ahmad Monabati,
1
Sadat
Noori,
2
Akbar safaei
2
1
Department of pathology and hematology research center,
Shiraz University of Medical sciences, Iran
2
Department of pathology, molecular pathology and cytogenetic
ward, Shiraz University of Medical sciences, Iran
Correspondence: Vahab Rekabi, Fellowship of molecular
pathology and cytogenetic, Shiraz University of Medical sciences,
Iran, Tel +989123247864, Fax 7132301784,
Email
Received: September 06, 2016 | Published: December 14,
2016
Abstract
Background: Infertility was found to afect approximately 10%-15% of the couples,
worldwide. Male factors are responsible for at least 50% of the infertility cases. The
chromosomal abnormality is more common in infertile men than in fertile men. However,
the aim of this study was to evaluate the frequency and type of major chromosomal
abnormalities in the infertile men with problems in their sperm count, who had been
referred to cytogenetic center in Shiraz, the main referral center in southern Iran.
Materials and Methods: A total of 433 infertile males, with azoospermia [169(31%)] and
oligospermia [264(69%)], were included in this prospective observational study. Samples
were retrospectively collected from the infertile males, and examined by karyotype analysis.
Results: The fndings revealed that there are 17.3% chromosomal problems, in which
14.3% and 3% of all cases exhibited numerical and structural abnormalities, respectively.
Among the 433 infertile patients, 57(33%) exhibited a numerical sex chromosome
abnormality, including 49 (11.3%) subjects with typical Klinefelter syndrome, 4 (2.95%)
ones with structural sex chromosome and 11 (4.4%) ones with the autosomal chromosome
abnormality.
Conclusion: The results from this study demonstrated that chromosomal abnormalities are
common in the infertile men with a higher frequency of sex chromosomal abnormality,
especially those with the numerical type. This highlights the importance of karyotype
fndings to make appropriate decisions regarding the management of the patients in
infertility clinics.
Keywords: infertility, cytogenetic analysis, azoospermia, oligospermia
Journal of Cancer Prevention & Current Research
Research Article
Open Access