Prevalence of Y chromosome microdeletions in oligospermic and azoospermic candidates for intracytoplasmic sperm injection

Oliva, Rafael; Margarit, Ester; Ballescá, José-Luis; Carrió, Ana; Sánchez, Aurora; Milá, Montserrat; Jiménez, Laura; Alvarez-Vijande, J.R.; Ballesta, Francisca

doi:10.1016/s0015-0282(98)00195-2

Cited by 79 publications

(38 citation statements)

References 24 publications

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“…The prevalence of microdeletions in azoospermic men was between the ranges of 6.7% (Kleiman et al, 1999) to 37.5% (Foresta et al, 1997). On the other hand, that in oligospermic men was between 1.5% (Oliva et al, 1998) to 22.7% (Foresta et al, 1997).…”

Section: Discussionmentioning

confidence: 85%

Y chromosome microdeletions in idiopathic azoospermia and non-mosaic type of Klinefelter syndrome

Lee

Kim²,

Kim³

et al. 2000

Exp Mol Med

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The objective of this study was to elucidate the cause of the spermatogenic defect in idiopathic azoospermia and non-mosaic type of Klinefelter syndrome. Genomic DNAs from 9 cases of Korean idiopathic azoospermia and 6 of Korean non-mosaic type of Klinefelter syndrome were used for the detection of Y chromosome microdeletions by polymerase chain reaction using 60 primers. Microdeletions of the Y chromosome were found in 1 of 9 (11.1%) patients with idiopathic azoospermia, whereas none was deleted in non-mosaic type of Klinefelter syndrome. This result suggests that Y chromosome microdeletions could be one of the etiologic factors in idiopathic azoospermia.

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Section: Discussionmentioning

confidence: 85%

Y chromosome microdeletions in idiopathic azoospermia and non-mosaic type of Klinefelter syndrome

Lee

Kim²,

Kim³

et al. 2000

Exp Mol Med

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“…6 Data on the prevalence of classical AZF deletions in men attending an infertility clinic in Spain derive from two independent surveys, with an overall frequency of 5.4% and 7%, respectively. 7,8 Because of its complex structure, rich in massive near-identical amplicons, the AZFc region is particularly susceptible to homologybased intrachromosomal recombination events and hence to structural variations as copy number variations (CNVs). 9,10 In addition to the classical AZFc deletion, several recurrent partial deletions (named gr/gr, b2/b3 and b1/b3) and duplications (b2/b4 duplication) have been reported.…”

Section: Introductionmentioning

confidence: 99%

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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“…In addition, most AZF microdeletions found thus far have been observed in patients with KFM (Oliva et al, 1998;Oates et al, 2002;Peterlin et al, 2002;Mitra et al, 2006), but these findings remain debatable, as there is no evidence so far showing that KFM patients have a higher chance of also having an AZF microdeletion. In the present study, no microdeletion was detected in either of the two azoospermic patients with 46,XX/47,XXY and 47,XXY, inv(9)(p11, q13).…”

Section: Discussionmentioning

confidence: 99%

Male infertility in Northeast China: molecular detection of Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome

Zhang¹,

Zhang²,

Wang³

et al. 2013

Genet. Mol. Res.

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ABSTRACT. The prevalence of microdeletions of azoospermia factor (AZF) among azoospermic Klinefelter's syndrome (KFS) patients shows conflicting data. We aimed to detect this frequency in a Northeast Chinese population, and to investigate the possible association between AZF microdeletions and KFS by comparison with previous conflicting reports. Eighty men affected with KFS and a random healthy control group comprising 60 fertile men and women were recruited. AZF microdeletions were detected by multiplex polymerase chain reaction using 9 specific sequence-tagged sites. Karyotype analyses were performed on peripheral blood lymphocytes using standard G-banding. Finally, azoospermia was confirmed in 77 men affected with KFS and no AZF microdeletions were found. Karyotype analysis revealed 1 patient with karyotype 47,XXY,inv (9) (p11, q13), and 2 with mosaic karyotypes (46,XX/47,XXY and 46,XY/47,XXY). All other patients had karyotype 47,XXY. Review of the literature showed that these results 4973©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 12 (4): 4972-4980 (2013) AZF microdeletions in azoospermic KFS patients were similar to those of other regions of Northeast Asia, but differed from those obtained from Caucasian populations. Our results supported the proposal that AZF microdeletions and KFS result from separate genetic defects. The prevalence of AZF in azoospermic KFS patients varies among populations, and it might result from genetic drift or selective pressure. These results suggest that routine screening for classical AZF microdeletions among infertile azoospermic men with a 47,XXY karyotype might not be necessary in Northeast Chinese individuals. However, it remains imperative for patients considering assisted reproductive treatments, particularly for those with mosaic karyotypes.

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Prevalence of Y chromosome microdeletions in oligospermic and azoospermic candidates for intracytoplasmic sperm injection

Cited by 79 publications

References 24 publications

Y chromosome microdeletions in idiopathic azoospermia and non-mosaic type of Klinefelter syndrome

Y chromosome microdeletions in idiopathic azoospermia and non-mosaic type of Klinefelter syndrome

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

Male infertility in Northeast China: molecular detection of Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome

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