Clinical diagnostic testing for the cytogenetic and molecular causes of male infertility: the Mayo Clinic experience

Hofherr, Sean E.; Wiktor, Anne E.; Kipp, Benjamin R.; Dawson, D. Brian; Dyke, Daniel L. Van

doi:10.1007/s10815-011-9633-6

Cited by 50 publications

(39 citation statements)

References 27 publications

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“…Deletions of the different AZF regions occured with different frequency. Confirming previous data [1,15,26], our findings showed that classical AZFc deletions represented the most frequent finding (54.17% of deletions in our cases), followed by the AZFbc region (18.75%), AZFb (10.42%) and AZFa (9.03%). Our data revealed that there was a slightly higher frequency of the AZFa and AZFb microdeletions in infertile patients than previous studies [14,26], which was mainly due to a high rate of partial deletions in AZFa region.…”

Section: Discussionsupporting

confidence: 92%

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Genetic screening for chromosomal abnormalities and Y chromosome microdeletions in Chinese infertile men

Xiong

Ding

et al. 2012

J Assist Reprod Genet

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Purposes To investigate the frequency and type of both chromosomal abnormalities and Y chromosome microdeletions and analyze their association with defective spermatogenesis in Chinese infertile men. Methods This is a single center study. Karyotyping using G-banding and screening for Y chromosome microdeletion by multiplex polymerase chain reactio(PCR)were performed in 200 controls and 1,333 infertile men, including 945 patients with non-obstructive azoospermia and 388 patients with severe oligozoospermia. Results Out of 1,333 infertile patients, 154(11.55%) presented chromosomal abnormalities. Of these, 139 of 945 (14.71%) were from the azoospermic and 15 of 388 (3.87%) from the severe oligozoospermic patient groups. The incidence of sex chromosomal abnormalities in men with azoospermia was 11.53% compared with 1.03% in men with severe oligozoospermia (P < 0.01). Also 144 of 1,333 (10.80%) patients presented Y chromosome microdeletions. The incidence of azoospermia factor(AZF) microdeletion was 11.75% and 8.51% in patients with azoospermia and severe oligozoospermia respectively. Deletion of AZFc was the most common and deletions in AZFa or AZFab or AZFabc were found in azoospermic men. In addition, 34 patients had chromosomal abnormalities among the 144 patients with Y chromosome microdeletions. No chromosomal abnormality and microdeletion in AZF region were detected in controls. Conclusions There was a high incidence (19.80%) of chromosomal abnormalities and Y chromosomal microdeletions in Chinese infertile males with azoospermia or severe oligozoospermia. These findings strongly suggest that genetic screening should be advised to infertile men before starting assisted reproductive treatments.

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Section: Discussionsupporting

confidence: 92%

“…Several previous studies have reported a wide range (2% to 16%) of chromosomal abnormalities in infertile patients [12,15,30,36]. Reasons for this discrepancy might be ethnic differences or the criteria applied for patient selection.…”

Section: Discussionmentioning

confidence: 99%

Genetic screening for chromosomal abnormalities and Y chromosome microdeletions in Chinese infertile men

Xiong

Ding

et al. 2012

J Assist Reprod Genet

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“…28,29 Moreover, the deletion frequency reported in idiopathic AZ and SOZ men (9.09 and 5.5%) in Moroccan population 28 is consistent with our findings in non-Spanish idiopathic AZ and SOZ men (10.7% and 6.9%, respectively). The prevalence of Y microdeletions in our study population (3.3%) is in line with the overall data presented in the literature (3.5%, according to a recent meta-analysis 30 ). When comparing our results with the German population (the lowest ever frequency in the literature 1 ) for similar semen categories, we found slightly higher frequencies in our Spanish population.…”

Section: -124supporting

confidence: 92%

Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory

et al. 2013

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AZF microdeletion screening is routinely performed in the diagnostic work-up for male infertility; however, some issues remain debated. In this study, we provide insights into the sperm concentration cutoff value for routine testing, the predictive value of AZFc deletion for testicular sperm retrieval and the Y-background contribution to the interpopulation variability of deletion frequencies. In the Spanish population, partial AZFc rearrangements have been poorly explored and no data exist on partial duplications. In our study, 27/806 (3.3%) patients carried complete AZF deletions. All were azoo/cryptozoospermic, except for one whose sperm concentration was 2 Â 10 6 /ml. In AZFc-deleted men, we observed a lower sperm recovery rate upon conventional TESE (9.1%) compared with the literature (60-80% with microTESE). Haplogroup E was the most represented among non-Spanish and hgr P among Spanish AZF deletion carriers. The analysis of AZFc partial rearrangements included 330 idiopathic infertile patients and 385 controls of Spanish origin. Gr/gr deletion, but not AZFc partial duplications, was significantly associated with spermatogenic impairment. Our data integrated with the literature suggest that: (1) routine AZF microdeletion testing could eventually include only men with r2 Â 10 6 /ml; (2) classical TESE is associated with low sperm recovery rate in azoospermic AZFc-deleted men, and therefore microTESE should be preferred; (3) Y background could partially explain the differences in deletion frequencies among populations. Finally, our data on gr/gr deletion further support the inclusion of this genetic test in the work-up of infertile men, whereas partial AZFc duplications do not represent a risk for spermatogenic failure in the Spanish population.

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“…The frequency of Y chromosome microdeletions varies between 1% [15] and 55% [16] in the worldwide whereas the few studies performed in Asian male populations showed frequencies of 7.6% to 16.5% in Japan [17][18][19][20][21][22], 11.0% to 19.4% in China [23,24], 10.6% to 11.7% in Taiwan [25,26], 6.4% in Hong Kong [27] and 2.0% to 12.0% in India [12,28,29]. A recently published study reported that the cumulative frequency of Y chromosome microdeletions was 3.5 % in infertile males [30]. It appears that a significant percentage of infertile males with microdeletions in AZF regions do not have children by natural means of reproduction.…”

Section: Abstract Y Chromosome Microdeletion Chromosomal Abnormalitmentioning

confidence: 99%

“…In the general male population, the incidence of chromosomal abnormalities ranges from 0.7% to 1.0%, whereas it is approximately 10.6% among azoospermic and oligozoospermic men [31,32]. The severity of the semen parameters and the frequency of chromosomal abnormalities seem to be positively correlated [30].…”

Section: Abstract Y Chromosome Microdeletion Chromosomal Abnormalitmentioning

confidence: 99%

Molecular and cytogenetic studies of 101 infertile men with microdeletions of Y chromosome in 1,306 infertile Korean men

Kim

Choi

Park

et al. 2012

J Assist Reprod Genet

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Objectives To determine the prevalence of Y chromosome microdeletions in infertile Korean men with abnormal sperm counts and to assess the clinical features and frequency of chromosomal abnormalities in Korean patients with microdeletions. Methods A total of 1,306 infertile men were screened for Y chromosome microdeletions, and 101 of them had microdeletions. These 101 men were then retrospectively studied for cytogenetic evaluation, testicular biopsy and outcomes of IVF and ICSI. ResultsThe overall prevalence of Y chromosome microdeletions in infertile men was 7.7 % (101/1,306). Most microdeletions were in the AZFc region (87.1%), including deletions of AZFbc (24.7 %) and AZFabc (8.9 %). All patients with AZFa, AZFbc and AZFabc deletions had azoospermia, whereas patients with an AZFc deletion usually had low levels of sperm in the ejaculate or in the testis tissues. Chromosomal studies were performed in 99 men with microdeletions, 36 (36.4%) of whom had chromosomal abnormalities. Among the infertile men with Y chromosome microdeletions in this study, the incidence of chromosomal abnormality was 48.6% in the azoospermic group and 3.7% in the oligozoospermic group. Among the 69 patients with microdeletions and available histological results, 100.0% of the azoospermic group and 85.7% of the oligozoospermic group had histological abnormalities. The frequency of both chromosomal abnormalities and histological abnormalities was higher in the azoospermic group compared to the oligozoospermic group. Thirtyfour ICSI cycles with either testicular (n014) or ejaculated spermatozoa (n020) were performed in 23 couples with men with AZFc microdeletion. Thirteen clinical pregnancies (39.4%) were obtained, leading to the birth of 13 babies. Conclusions The study results revealed a close relationship between microdeletions and spermatogenesis, although IVF outcome was not significantly affected by the presence of the AZFc microdeletion. Nevertheless, Y chromosome microdeletions have the potential risk of being transmitted from infertile fathers to their offspring by ICSI. Therefore, before using ICSI in infertile patients with severe spermatogenic defects, careful evaluations of chromosomal abnormalities and Y chromosome microdeletions screening should be performed and genetic counseling should be provided before IVF-ET.Capsule A close relationship exists between microdeletions and spermatogenesis, although IVF outcome was not significantly affected by the presence of an AZFc microdeletion.

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Clinical diagnostic testing for the cytogenetic and molecular causes of male infertility: the Mayo Clinic experience

Cited by 50 publications

References 27 publications

Genetic screening for chromosomal abnormalities and Y chromosome microdeletions in Chinese infertile men

Genetic screening for chromosomal abnormalities and Y chromosome microdeletions in Chinese infertile men

Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory

Molecular and cytogenetic studies of 101 infertile men with microdeletions of Y chromosome in 1,306 infertile Korean men

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