scholarly journals The consequences of somatic sex chromosomal abnormalities on meiosis and sperm production in infertile men

2016 ◽  
Vol 106 (3) ◽  
pp. e235-e236
Author(s):  
H. Ren ◽  
K. Ferguson ◽  
E. Wong ◽  
V. Chow ◽  
S. Ma
Keyword(s):  
Chromosomal Abnormalities ◽  
Sperm Production ◽  
Infertile Men

Y Chromosome deletions and male infertility

1997 ◽  
Vol 6 (1) ◽  
pp. 37-53 ◽  
Author(s):  
D M de Kretser ◽  
C Mallidis ◽  
K Ma ◽  
S Bhasin
Keyword(s):  
Y Chromosome ◽  
Chromosomal Abnormalities ◽  
Genetic Disorders ◽  
Male Partner ◽  
Testicular Feminization ◽  
Sperm Production ◽  
The Past ◽  
Infertile Men ◽  
Gene Defects ◽  
Chromosome Deletions

Approximately one in ten couples experience infertility, and in about 40% of these infertile unions there are abnormalities in the fertility of the male partner. The clinical management of these infertile men is less than satisfactory because in 40% of such patients the cause of the abnormalities of sperm production and quality is unknown. The possibility that genetic disorders may account for a proportion of these disturbances of sperm production has been raised. It is well recognized that chromosomal abnormalities such as Klinefelter's syndrome cause azoospermia and that gene defects are the basis of testicular feminization, Kallman's syndrome and Reifenstein's syndrome. With the explosion in our knowledge of the human genome, the possibility exists that other genetic disorders may form the basis of other sperma-togenic abnormalities. The past decade has witnessed the accumulation of evidence linking abnormalities of the Y chromosome with disturbances in sperm production and these observations form the basis of this review.

scholarly journals Prevalence of Chromosomal Abnormalities in Infertile Couples in Romania

2015 ◽  
Vol 18 (1) ◽  
pp. 23-30 ◽  
Author(s):  
Dana Mierla ◽  
M. Malageanu ◽  
R. Tulin ◽  
D. Albu
Keyword(s):  
Retrospective Study ◽  
Chromosomal Abnormalities ◽  
Normal Karyotype ◽  
Control Group ◽  
Chromosomal Anomalies ◽  
Exact Test ◽  
Infertile Women ◽  
Infertile Men ◽  
Significant Statistical Association

AbstractThe purpose of this study was to establish a correlation between the presence of chromosomal abnormalities in one of the partners and infertility. This retrospective study was performed at the Department of Reproductive Medicine, Life Memorial Hospital, Bucharest, Romania, between August 2007 to December 2011. Two thousand, one hundred and ninety-five patients with reproductive problems were investigated, and the frequency of chromosomal abnormalities was calculated. The control group consisting of 87 fertile persons who had two or more children, was investigated in this retrospective study. All the patients of this study were investigated by cytogenetic techniques and the results of the two groups were compared by a two-tailed Fisher’s exact test. In this study, 94.99% patients had a normal karyotype and 5.01% had chromosomal abnormalities (numerical and structural chromosomal abnormalities). In the study group, numerical chromosomal abnormalities were detected in 1.14% of infertile men and 0.62% of infertile women, and structural chromosomal abnormalities were detected in 1.38% of infertile men and 1.87% of infertile women, respectively. The correlation between the incidence of chromosomal anomalies in the two sexes in couple with reproductive problems was not statistically significant. Recently, a possible association between infertility and chromosomal abnormalities with a significant statistical association has been reported. Our study shows that there is no association between chromosomal abnormalities and infertility, but this study needs to be confirmed with further investigations and a larger control group to establish the role of chromosomal abnormalities in the etiology of infertility.

CHROMOSOMAL ABNORMALITIES AND POLYMORPHISMS IN INFERTILE MEN

2001 ◽  
Vol 46 (3) ◽  
pp. 205-210 ◽  
Author(s):  
S. Penna Videaú, H. Araujo, F. Ball
Keyword(s):  
Chromosomal Abnormalities ◽  
Infertile Men

scholarly journals Chromosomal abnormalities in 1663 infertile men with azoospermia: the clinical consequences

2017 ◽  
Vol 32 (12) ◽  
pp. 2574-2580 ◽  
Author(s):  
R B Donker ◽  
V Vloeberghs ◽  
H Groen ◽  
H Tournaye ◽  
C M A van Ravenswaaij-Arts ◽  
...  
Keyword(s):  
Chromosomal Abnormalities ◽  
Infertile Men ◽  
Clinical Consequences

scholarly journals Chromosomal aneuploidies and associated rare genetic syndromes involved in male infertility

2021 ◽  
Keyword(s):  
Male Infertility ◽  
Chromosomal Abnormalities ◽  
Genetic Disorders ◽  
Molecular Genetic ◽  
Unexplained Infertility ◽  
Next Generation ◽  
Genetic Syndromes ◽  
Infertile Men ◽  
Genetic Abnormalities ◽  
Chromosomal Aneuploidies

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.

scholarly journals Chromosomal abnormalities and Y chromosome microdeletions in infertile men with azoospermia and oligozoospermia in Eastern China

2019 ◽  
Vol 48 (4) ◽  
pp. 030006051989671
Author(s):  
Jing Sha ◽  
Guiping Huang ◽  
Bei Zhang ◽  
Xia Wang ◽  
Zaochun Xu ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Assisted Reproduction ◽  
Sex Chromosome ◽  
Chromosomal Abnormalities ◽  
Eastern China ◽  
Peripheral Blood Lymphocytes ◽  
Specific Sequence ◽  
Sequence Tagged Sites ◽  
Infertile Men ◽  
Y Chromosome Microdeletions

Objective The objective was to investigate the frequency and type of chromosomal abnormalities and Y chromosome microdeletions in infertile men with azoospermia and oligozoospermia to ensure appropriate genetic counseling before assisted reproduction in Eastern China. Methods A total of 201 infertile men (148 with azoospermia and 53 with oligozoospermia) were enrolled. Real-time PCR using six Y-specific sequence-tagged sites of the azoospermia factor (AZF) region was performed to screen for microdeletions. Karyotype analyses were performed on peripheral blood lymphocytes with standard G-banding. Results Out of 201 infertile patients, 22 (10.95%) had Y microdeletions [17/148 (11.49%) men with azoospermia and 5/53 (9.43%) men with oligozoospermia]. The most frequent microdeletions were in the AZFc region, followed by the AZFa+b + c, AZFb+c, AZFa, and AZFb regions. Chromosomal abnormalities were detected in 18.91% (38/201) of patients, 34 of which were sex chromosome abnormalities (16.92%) and 4 of which were autosomal abnormalities (1.99%). Chromosomal abnormalities were more prevalent in men with azoospermia (22.97%) than in those with oligozoospermia (7.55%). Conclusions We detected a high incidence of chromosomal abnormalities and Y chromosomal microdeletions in infertile Chinese men with azoospermia and oligozoospermia. These findings suggest the need for genetic testing before the use of assisted reproduction techniques.

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