Genetic and epigenetic risks of intracytoplasmic sperm injection method

Georgiou, Ioannis; Syrrou, Maria; Pardalidis, Nicolaos; Karakitsios, Konstantinos; Mantzavinos, Themis; Giotitsas, N.; Loutradis, Dimitrios; Dimitriadis, F.; Saito, Motoaki; Miyagawa, Ikuo; Tzoumis, Pavlos; Sylakos, Anastasios; Kanakas, N.; Moustakareas, Theodoros; Baltogiannis, D.; Touloupides, Stavros; Giannakis, Dimitrios; Fatouros, Michael; Sofikitis, Nikolaos

doi:10.1111/j.1745-7262.2006.00231.x

Cited by 93 publications

(74 citation statements)

References 223 publications

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“…Since the analyzed infertile patients showed severe morphological and meiotic spermatogenetic impair ment, and inter individual variations cannot be pre dicted [10], a detailed ultrastructural and chromosomal analysis of spermatozoa from every reciprocal trans location carrier is advisable before undertaking ICSI cycles, and it is important to discuss with couple the option of Preimplantation Genetic Diagnosis [23].…”

Section: Discussionmentioning

confidence: 99%

18, X, Y aneuploidies and transmission electron microscopy studies in spermatozoa from five carriers of different reciprocal translocations

Moretti¹,

Pascarelli²,

Giannerini³

et al. 2009

Asian J Androl

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We analysed ejaculated spermatozoa from five infertile men with different balanced reciprocal translocations to contribute to the study of meiotic segregation of chromosomes 18, X and Y and also to evaluate sperm morphology by transmission electron microscopy (TEM) analysis. Conventional lymphocyte karyotype analyses highlighted dif ferent reciprocal balanced translocations: t(12;13), t(4;9), t(X;8), t(8;10) and t(3;16). Semen analysis was performed by light and TEM. Fluorescence in situ hybridization was performed directly on sperm nuclei using centromeric probes for chromosomes 18, X and Y. The carriers of the balanced reciprocal translocations considered in the pres ent study showed a very similar pattern of sperm pathologies: diffused presence of apoptosis and immaturity. All patients showed meiotic segregation derangements, highlighted by the presence of sperm diploidies and sex chro mosome disomies particularly related to the failure of the first meiotic division. However, an increased incidence of chromosome 18 aneuploidy was detected in spermatozoa from t(X;8) and t(8;10) carriers. We have also reported values from sex chromosomes such as t(X;8), although the X chromosome was involved in translocation. Since pa tients with reciprocal translocations and spermatogenetic impairment are candidates for intracytoplasmic sperm in jection cycles, the study of sperm parameters, and particularly of the level of aneuploidy rates, would provide better information for couples at risk and would contribute to the data in the literature for a better understanding of the ef fects of chromosomal rearrangement on the whole meiotic process and, in particular, on chromosomes not involved in translocation.

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Section: Discussionmentioning

confidence: 99%

18, X, Y aneuploidies and transmission electron microscopy studies in spermatozoa from five carriers of different reciprocal translocations

Moretti¹,

Pascarelli²,

Giannerini³

et al. 2009

Asian J Androl

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“…Although the prevalence rate of robertsonian translocation (RT) is 0.9 in infertile males, this figure is 9 times higher than in the general population [27,28]. Reciprocal translocations are observed in 0.9 of 1000 newborns and involve exchange of two unrelated chromosomal segments [29]. They have been found in approximately 1 % of infertile men and commonly occur in azoospermic men compared to oligozoospermic males [16,30].…”

Section: Chromosomal Translocationsmentioning

confidence: 99%

“…In addition, AZFc deletions are associated with testicular histologies varying from hypo-spermatogenesis (HP) to MA or SCOS [59]. Recently, studies have demonstrated that although only the AZFa and AZFb regions are required to initiate spermatogenesis, without the AZFc region, spermatogenesis will not be completely normal [29].…”

Section: The Azfb (P5/proximal-p1) Regionmentioning

confidence: 99%

A multi-faceted approach to understanding male infertility: gene mutations, molecular defects and assisted reproductive techniques (ART)

Tahmasbpour

Balasubramanian

Agarwal

2014

J Assist Reprod Genet

107

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Background The assisted reproductive techniques aimed to assist infertile couples have their own offspring carry significant risks of passing on molecular defects to next generations. Results Novel breakthroughs in gene and protein interactions have been achieved in the field of male infertility using genome-wide proteomics and transcriptomics technologies. Conclusion Male Infertility is a complex and multifactorial disorder.Significance This review provides a comprehensive, up-todate evaluation of the multifactorial factors involved in male infertility. These factors need to be first assessed and understood before we can successfully treat male infertility.

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“…Assisted reproduction technologies in general and intracytoplasmic sperm injection in particular, currently are a treatment option for patients with reduced sperm counts. However, intracytoplasmic sperm injection increases the chances of bypassing chromosomal abnormalities to the offspring, thus increasing the probability of developing malformations of genetic origin [12]. Therefore, cytogenetic analysis of patients with azoospermia and oligozoospermia is mandatory before infertility treatment with assisted reproduction technologies.…”

Section: Introductionmentioning

confidence: 99%

Chromosomal abnormalities in patients with oligozoospermia and non-obstructive azoospermia

Pylyp

Spinenko²,

Verhoglyad³

et al. 2013

J Assist Reprod Genet

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Purpose To assess the frequency and types of chromosomal abnormalities in 204 Ukrainian patients with non-obstructive azoospermia and oligozoospermia and 87 men with normozoospermia. Methods Cytogenetic studies were performed on peripheral blood lymphocyte samples of 164 men with oligozoospermia, 40 men with non-obstructive azoospermia and 87 men with normozoospermia attending infertility clinic. Results Chromosomal abnormalities were detected in 17 % of patients with sperm disorders: in 35 % of men with azoospermia and in 12.7 % of men with oligozoospermia. The frequency of chromosomal abnormalities in patients with sperm disorders was significantly higher, than in patients with normozoospermia (P=0.0001). An increase in the incidence of chromosomal abnormalities with the decrease of sperm count was observed. Chromosomal abnormalities were detected in 1.1 % of patients with normozoospermia, 6.5 % of patients with mild oligozoospermia (sperm count 5-15 ×10 6 /ml), 18.4 % of patients with severe oligozoospermia (sperm count <5 ×10 6 /ml) and 35 % of patients with azoospermia. A significant increase in the frequency of chromosomal abnormalities in patients with severe oligozoospermia was observed when compared to mild oligozoospermia (P=0.01). A statistically significant association (P= 0.02) of chromosomal abnormalities and sex chromosome abnormalities (P=0.0001) with azoospermia when compared to oligozoospermia was observed. Conclusions Our results highlight the importance of cytogenetic studies in patients with oligozoospermia (both mild and severe) and non-obstructive azoospermia. The presence of chromosomal abnormalities influences significantly the fertility treatment protocols, as well as provides a definite diagnosis to couples suffering from infertility.

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Genetic and epigenetic risks of intracytoplasmic sperm injection method

Cited by 93 publications

References 223 publications

18, X, Y aneuploidies and transmission electron microscopy studies in spermatozoa from five carriers of different reciprocal translocations

18, X, Y aneuploidies and transmission electron microscopy studies in spermatozoa from five carriers of different reciprocal translocations

A multi-faceted approach to understanding male infertility: gene mutations, molecular defects and assisted reproductive techniques (ART)

Chromosomal abnormalities in patients with oligozoospermia and non-obstructive azoospermia

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