The frequencies of Y chromosome microdeletions in infertile males

Akınsal, Emre Can; Baydilli, Numan; Dündar, Munis; Ekmekçioğlu, Oğuz

doi:10.5152/tud.2018.73669

Cited by 22 publications

(14 citation statements)

References 23 publications

(23 reference statements)

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“…Among the 717 patients with azoospermia in the present study, AZFa, AZFb, AZFc, AZFb+c, and AZFa+b+c deletions were observed in 0.6%, 0.6%, 3.9%, 1.3%, and 1.1% of the patients, respectively, which were similar to those reported in previous studies. 6 7 8 9 10 In patients with severe oligozoospermia, the AZFc deletion was observed in 8.0% of patients, which was higher than that in patients with azoospermia. To detect AZFc deletions, the EAA/European Molecular Quality Network (EMQN) guidelines 1 recommended Y chromosome microdeletion screening at a sperm count of <5 × 10 6 ml −1 , whereas Johnson et al .…”

Section: Discussionmentioning

confidence: 94%

Y chromosome microdeletion screening using a new molecular diagnostic method in 1030 Japanese males with infertility

et al. 2020

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The azoospermia factor (AZF) region is important for spermatogenesis, and deletions within these regions are a common cause of oligozoospermia and azoospermia. Although several studies have reported this cause, the present research, to the best of our knowledge, is the first large-scale study assessing this factor in Japan. In this study, 1030 male patients with infertility who were examined for Y chromosome microdeletion using the polymerase chain reaction-reverse sequence-specific oligonucleotide (PCR-rSSO) method, a newly developed method for Y chromosome microdeletion screening, were included. The study enrolled 250 patients with severe oligospermia and 717 patients with azoospermia. Among the 1030 patients, 4, 4, 10, and 52 had AZFa, AZFb, AZFb+c, and AZFc deletions, respectively. The sperm recovery rate (SRR) of microdissection testicular sperm extraction in patients with AZFc deletions was significantly higher than that in those without AZF deletions (60.0% vs 28.7%, P = 0.04). In patients with gr/gr deletion, SRR was 18.7%, which was lower than that in those without gr/gr deletion, but was not statistically significant. In conclusion, our study showed that the frequency of Y chromosome microdeletion in male patients in Japan was similar to that reported in patients from other countries, and SRR was higher in patients with AZFc deletion.

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Section: Discussionmentioning

confidence: 94%

Y chromosome microdeletion screening using a new molecular diagnostic method in 1030 Japanese males with infertility

et al. 2020

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“…Approximately 15% of couples worldwide are unable to conceive due to infertility and males contribute to 50% of the infertility cases 20,21 . There are several causative factors for male infertility, including genetic and environmental factors [21][22][23][24] . Abnormal semen (dysspermatism) is a reason for infertility, which occurs in about 50% of the cases of male infertity 25,26 .…”

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confidence: 99%

Potential Pathogenic Bacteria in Seminal Microbiota of Patients with Different Types of Dysspermatism

Yang

Zhang

Xue

et al. 2020

Sci Rep

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Human microbiota play an important role in the health of their human hosts. Recent studies have demonstrated that microbiota exist in seminal plasma. The current study aims to elucidate whether seminal microbiota exist in patients with different types of dysspermatism and whether bacterial biomarkers can be identified for them. A total of 159 study participants were recruited, including 22 patients with oligoasthenospermia, 58 patients with asthenospermia, 8 patients with azoospermia, 13 patients with oligospermia, and 58 matched healthy controls. Seminal microbiota composition was analyzed using 16S rRNA gene-based sequencing. The results showed that the composition of seminal microbiota of patients with dysspermatism differed from those of healthy controls. Comparison of the microbiota composition in semen samples from patients with different types of dysspermatism showed that microbiota in patients with asthenospermia and oligoasthenospermia were distinct from healthy controls in beta diversity (P < 0.05). Characteristic biomarkers, including Ureaplasma, Bacteroides, Anaerococcus, Finegoldia, Lactobacillus and Acinetobacter lwoffii, were identified based on LEfSe analysis. Inferred functional analysis based on seminal microbiome data further indicated the presence of potential pathogenic biomarkers in patients with asthenospermia and oligoasthenospermia. These results provided profiles of seminal microbiota exhibited in different types of dysspermatism, thus providing new insights into their pathogenesis. Human microbiota, with its diverse relationships-commensal, parasitic, mutualistic, and pathogenic-play an important role in human health. Recent studies have reported that microbiota exist in almost every part of human body-even in the endocrine niche, such as in tumors, blood, and synovial fluid 1-4. Advances in technology and new research have demonstrated that microbiota are found in seminal plasma, and play an important role in host homeostasis 5. It has been demonstrated that the presence of bacteria in sperm is associated with male infertility 6. Some bacteria in the urogenital tract may affect spermatogenesis and decrease sperm quality through various means, including decrease in sperm motility, deficiency in DNA integrity, and destruction of mitochondrial function 7. Escherichia coli, Mycoplasma genitalium, Ureaplasma urealyticum, Mycoplasma hominis, Staphylococcus aureus, and Chlamydia trachomatis are pathogens associated with male infertility 8-12. Several studies using high-throughput sequencing have demonstrated that seminal plasma has a bacterial community, which includes Lactobacillus, Pseudomonas, Prevotella, and Gardnerella, among others 13-19 .

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“…Using a higher sensitivity technique leads to increase in detection limit of Y microdeletions which explains the difference between our results and previous studies that reported a lower incidence of microdeletions due to using PCR technique detecting 6 STS [22], 10 STS [26] Fourty seven percent of Y microdeletions in our study were detected in the AZFb+c, Thirty eight percent of microdeletions were identified in AZF-c patients, 9.5% in AZF-a+b+c and only 4.8%in AZF-b. Our data are showed that the highest incidence in Y microdeletions was in AZF-b+c; most of international reports revealed that, deletions of AZFc were at highest frequency Deletions in AZFc region was the most frequent 75% [27], (48.1%) [28], (46.6 %) [29].Variation in the reported frequencies could be related to the difference in ethnicity and sample size variability. In our study, among 114 azoospermic patients, 21/114 (18.4%) had detectable Y chromosome microdeletions vs. only 3/36 patients (8.3%) in the oligospermic group.…”

Section: Discussionmentioning

confidence: 58%

Detection of Y-Chromosome microdeletions in Egyptian infertile males

Ahmed

El-Dessouky

Fahmi

et al. 2019

Journal of Scientific Research in Science

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The major genetic causes in male infertility are chromosomal abnormalities and Y chromosomal microdeletions (YCMs). YCMs occur in approximately 15% of azoospermic patients and 10% of severe oligospermic patients. These microdeletions lead to spermatogenic failure. This study aims to report the incidence of Azoospermia factor (AZF) microdeletions in Egyptian infertile males with severe oligoospermia & non obstructive azoospermia (NOA) using multiplex PCR. One hundred-fifty infertile males were included. Semen analysis, hormonal assay, karyotyping, testicular sperm extraction and testicular biopsy were performed.Y chromosome microdeletions were detected by using multiplex polymerase chain reaction (PCR). Among 150 infertile males; Considering Y chromosome; in severe oligospermic infertile males 3/36 (8.3%) had Y chromosome microdeletions in AZF subregions where; 1/3(33.3%) showed deletions in AZF-c and 2/3(66.7%) showed deletions in both AZF-b+c. However; no deletions were detected in AZF-a region in this group. In NOA group, 21/114(18.4%) had Y chromsome microdeletions in AZF subregions where; 1/21 (4.8%) showed deletions in AZFb region, 2/21 (9.5%) showed deletion in both of AZF-a+b+c regions, 8/21 (38%) showed deletions in AZF-c region only and 10/21 (47.6%) showed deletions in both AZF-b+c regions. Conclusion: The frequency of Y chromosome microdeletions in our studied patients was similar to many ethnic reports. Detection of AZF microdeletions is necessary for proper genetic diagnosis in infertile males. AZFc can help informed decisions regarding positive testicular sperm extraction outcome.

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The frequencies of Y chromosome microdeletions in infertile males

Cited by 22 publications

References 23 publications

Y chromosome microdeletion screening using a new molecular diagnostic method in 1030 Japanese males with infertility

Y chromosome microdeletion screening using a new molecular diagnostic method in 1030 Japanese males with infertility

Potential Pathogenic Bacteria in Seminal Microbiota of Patients with Different Types of Dysspermatism

Detection of Y-Chromosome microdeletions in Egyptian infertile males

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