Combined cytogenetic and Y chromosome microdeletion screening in males undergoing intracytoplasmic sperm injection

Ven, Katrin van der; Montag, Markus; Peschka, B.; Leygraaf, J.; Schwanitz, Gesa; Haidl, G.; Krebs, D.; Ven, H. van der

doi:10.1093/molehr/3.8.699

Cited by 132 publications

(75 citation statements)

References 22 publications

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“…The frequency of microdeletion varies between 1 % [19] and 55 % [20] worldwide. AZFc, the most frequently deleted region of the Y chromosome in infertile males, is a de-novo microdeletion found in one out of 4,000 males [21].…”

Section: Discussionmentioning

confidence: 99%

Y chromosome AZFc microdeletion may not affect the outcomes of ICSI for infertile males with fresh ejaculated sperm

Liu

Qiao

et al. 2013

J Assist Reprod Genet

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Purpose To explore whether the presence of a Y chromosome AZFc microdeletion confers any adverse effect on the outcomes of intracytoplasmic sperm injection (ICSI) with fresh ejaculated sperm. Methods A total of 143 oligozoospermia patients with Y chromosome AZFc microdeletion in ICSI cycles in a fiveyear period were studied. Infertile men with normal Y chromosome in ICSI at the same time-frame were used as controls matched to the study group for age of female, female's body mass index, male's age, infertility duration and number of oocytes retrieved. Retrospective case-control study was used. Results There were no significant differences between groups in clinical outcomes of endometrial thickness, transferred embryos, good embryo rates, implantation rates, biochemical pregnancy rates, clinical pregnancy rates, ectopic pregnancy rates, miscarriage rates, preterm birth rates, the ratio of male and female babies, newborn body height, newborn weight, low birth weight and birth defects (P>0.05). Patients with Y chromosome AZFc microdeletion had a lower fertilization rate (61.8 % vs. 67.8 %, P<0.05) and higher cleaved embryo rate (94.0 % vs. 88.1 %, P<0.05). Conclusions ICSI clinical outcomes for oligozoospermic patients with Y chromosome AZFc microdeletion are basically comparable to that of infertile patients with normal Y chromosomes. The results of ICSI were not affected by the AZFc deletion. Preimplantation genetic diagnosis (PGD) before ICSI for Y chromosome AZFc microdeletion may not be a justifiable regular procedure if the couples didn't care the vertical transmission of Y chromosome deletion.

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Section: Discussionmentioning

confidence: 99%

Y chromosome AZFc microdeletion may not affect the outcomes of ICSI for infertile males with fresh ejaculated sperm

Liu

Qiao

et al. 2013

J Assist Reprod Genet

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“…The reported frequency of deletions varies from 1% (18) to 55% (19), which is largely related to different inclusion criteria and the number of STSs used. The accumulated data (20) showed a 12.2% microdeletion rate in azoospermic men and 3.4% in oligozoospermic men.…”

Section: Discussionmentioning

confidence: 99%

Clinical and laboratory evaluation of idiopathic male infertility in a secondary referral center in India

Abid

Maitra

Meherji

et al. 2008

Clinical Laboratory Analysis

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The genetic basis of infertility has received increasing recognition in recent years, particularly with the advent of assisted reproductive technology. It is now becoming obvious that genetic etiology for infertility is an important cause of disrupted spermatogenesis. Y-chromosome microdeletions and abnormal karyotype are the two major causes of altered spermatogenesis. To achieve biological fatherhood, intracytoplasmic sperm injection (ICSI) is performed in cases of severe infertility with or without genetic abnormalities. There is a concern that these genetic abnormalities can be transmitted to the male progeny, who may subsequently have a more severe phenotype of infertility. A total of 200 men were recruited for clinical examinations, spermiograms, hormonal profiles, and cytogenetic and Yq microdeletion profiles. Testicular biopsy was also performed whenever possible and histologically evaluated. Genetic abnormalities were seen in 7.1% of cases, of which 4.1% had chromosomal aberrations, namely Klinefelter's mosaic (47XXY) and Robertsonian translocation, and 3.0% had Yq microdeletions, which is very low as compared to other populations. Follicle stimulating hormone (FSH) and luteinizing hormone (LH) were significantly increased in men with nonobstructive azoospermia (NOA) as compared to severe oligoasthenozoospermia (Po0.0001), whereas testosterone levels were significantly decreased in men with microdeletions as compared to men with no microdeletions (Po0.0083). Low levels of androgen in men with microdeletions indicate a need to followup for early andropause. Patients with microdeletions had more severe testicular histology as compared to subjects without deletions. Our studies showed a significant decrease (Po0.002) in the serum inhibin B values in men with NOA, whereas FSH was seen to be significantly higher as compared to men with severe oligoasthenozoospermia (SOAS), indicating that both the Sertoli cells as well the germ cells were significantly compromised in cases of NOA and partially affected in SOAS. Overall inhibin B in combination with serum FSH would thus be a better marker than serum FSH alone for impaired spermatogenesis. In view of the genetic and hormonal abnormalities in the group of infertile men with idiopathic severe oligozoospermia and NOA cases, who are potential candidates for ICSI, genetic testing for Y-chromosome microdeletions, karyotype, and biochemical parameters is advocated.

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“…It represents the second most common genetic cause of spermatogenetic failure in infertile males after Klinefelter's syndrome [18,37]. The incidence of Y micro deletions in infertile men varies from 1 to 55 % [38,39].…”

Section: Y Chromosome and Male Infertilitymentioning

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

109

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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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Combined cytogenetic and Y chromosome microdeletion screening in males undergoing intracytoplasmic sperm injection

Cited by 132 publications

References 22 publications

Y chromosome AZFc microdeletion may not affect the outcomes of ICSI for infertile males with fresh ejaculated sperm

Y chromosome AZFc microdeletion may not affect the outcomes of ICSI for infertile males with fresh ejaculated sperm

Clinical and laboratory evaluation of idiopathic male infertility in a secondary referral center in India

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

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