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

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.

2008 ◽  
Vol 29 (6) ◽  
pp. 654-660 ◽  
Author(s):  
S. G. Martinez-Garza ◽  
M. C. Gallegos-Rivas ◽  
M. Vargas-Maciel ◽  
J. M. Rubio-Rubio ◽  
M. E. de los Monteros-Rodriguez ◽  
...  

2016 ◽  
Vol 106 (3) ◽  
pp. e235-e236
Author(s):  
H. Ren ◽  
K. Ferguson ◽  
E. Wong ◽  
V. Chow ◽  
S. Ma

PEDIATRICS ◽  
1988 ◽  
Vol 82 (5) ◽  
pp. 698-706 ◽  
Author(s):  
Marvin Natowicz ◽  
Jane Chatten ◽  
Robert Clancy ◽  
Katrina Conard ◽  
Tracy Glauser ◽  
...  

All pediatric autopsies of patients with hypoplastic left heart syndrome seen during an 11-year interval were reviewed to determine the frequency of underlying chromosomal and single-gene defects and idiopathic major extracardiac anomalies associated with this common, lethal congenital heart abnormality. Of 83 patients identified, nine had underlying chromosomal abnormalities, four had single-gene defects, ten had one or more major extracardiac anomalies without an identifiable chromosomal or mendelian disorder, and two were infants of insulin-dependent diabetic mothers. Overall, 23 patients (28%) had a genetic disorder and/or major extracardiac anomaly. The substantial prevalence of genetic causes of and major extracardiac anomalies associated with hypoplastic left heart syndrome underscores the need for a detailed genetic evaluation for all patients with hypoplastic left heart syndrome.


2021 ◽  

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.


2019 ◽  
Vol 48 (4) ◽  
pp. 030006051989671
Author(s):  
Jing Sha ◽  
Guiping Huang ◽  
Bei Zhang ◽  
Xia Wang ◽  
Zaochun Xu ◽  
...  

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.


BMC Urology ◽  
2015 ◽  
Vol 15 (1) ◽  
Author(s):  
Yassine Naasse ◽  
Hicham Charoute ◽  
Brahim El Houate ◽  
Chadli Elbekkay ◽  
Lunda Razoki ◽  
...  

2006 ◽  
Vol 42 (8) ◽  
pp. 936-941 ◽  
Author(s):  
V. B. Chernykh ◽  
A. L. Chukhrova ◽  
T. S. Beskorovainaya ◽  
E. M. Grishina ◽  
T. M. Sorokina ◽  
...  

2012 ◽  
Vol 29 (6) ◽  
pp. 521-527 ◽  
Author(s):  
Li Fu ◽  
Da-Ke Xiong ◽  
Xian-Ping Ding ◽  
Chuang Li ◽  
Li-Yuan Zhang ◽  
...  

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