Screening for partial AZFa microdeletions in the Y chromosome of infertile men: is it of clinical relevance?

Kleiman, Sandra E.; Almog, Ronit; Yogev, Leah; Hauser, Ron; Lehavi, Ofer; Paz, Gedalia; Yavetz, Haim; Botchan, Amnon

doi:10.1016/j.fertnstert.2012.03.034

Cited by 49 publications

(45 citation statements)

References 27 publications

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“…The majority of complete AZFa deletion carriers show SCOS in their testes; however, data are extremely scarce and the largest published review reported the presence of spermatids in the testes in 2/26 men. 32 Our patient with the complete AZFa deletion showed a complete bilateral SCOS, further supporting that TESE should not be attempted in AZFa carriers. Our survey reports a sperm retrieval of 9.1% (1/11) in AZ men with AZFc deletion.…”

Section: -124supporting

confidence: 59%

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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Section: -124supporting

confidence: 59%

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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“…So far, more than 100 STS markers have been found in previous studies (Mitra et al, 2008;O'Flynn O'Brien et al, 2010;Kleiman et al, 2012), but only a limited number of markers can be used in clinical diagnosis. It is mainly due to the European Academy of Andrology (EAA) and European Molecular Genetics Quality Network (EMGQ) recommend six STS makers in AZFa (sY84, sY86), AZFb (sY127, sY133) and AZFc (sY254, sY255) sub-regions, which over 90% of deletions can be detected in Caucasian (Simoni et al, 1999).…”

Section: Introductionmentioning

confidence: 99%

The sperm quality and clinical outcomes were not affected by sY152 deletion in Y chromosome for oligozoospermia or azoospermia men after ICSI treatment

Zhu¹,

Wu²,

Li³

et al. 2015

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“…The markers used were combined in four different multiplex-PCR, and the results were checked by capillary electrophoresis (QIAxcel, Qiagen, Hilden, Germany). For the optimal detection of AZF deletions, we followed the published indications for AZFa,1112131519 AZFb, and AZFc 14161922. Besides the indicated STS markers, we also performed additional STS markers for spanning all AZF regions and SRY:11121314151620…”

Section: Methodsmentioning

confidence: 99%

“…Distinct histopathology phenotypes were correlated with the site of the microdeletion, varying from complete absence of germ cells (Sertoli Cell-Only Syndrome, SCOS) in patients with AZFa microdeletions, maturation arrest at meiosis (MA) in cases with AZFb microdeletions, to hypospermatogenesis (HP) in patients with AZFc microdeletions 59111213141516. However, individual variation on the extent of microdeletions has led to the observation of incomplete microdeletions which enable the existence of spermatogenesis foci in SCOS and MA and thus successful testicular sperm retrieval 17181920.…”

Section: Introductionmentioning

confidence: 99%

Y-chromosome microdeletions in nonobstructive azoospermia and severe oligozoospermia

et al. 2017

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The aim of the present work was to present the outcomes of the patients with Y-chromosome microdeletions treated by intracytoplasmic sperm injection (ICSI), either using fresh (TESE) or frozen-thawed (TESE-C) testicular sperm and ejaculated sperm (EJAC). The originality of this work resides in the comparisons between the different types of Y-microdeletions (AZFa, AZFb, and AZFc) and treatments, with detailed demographic, stimulation, embryological, clinical, and newborn (NB) outcomes. Of 125 patients with Y-microdeletions, 33 patients presented severe oligozoospermia (18 performed ICSI with ejaculated sperm) and 92 secretory azoospermia (65 went for TESE with 40 having successful sperm retrieval and performed ICSI). There were 51 TESE treatment cycles and 43 TESE-C treatment cycles, with a birth of 19 NB (2 in AZFa/TESE-C, 12 in AZFc/TESE, and 5 in AZFc/TESE-C). Of the 29 EJAC cycles, there was a birth of 8 NB (in AZFc). In TESE and EJAC cycles, there were no significant differences in embryological and clinical parameters. In TESE-C cycles, there was a significant lower oocyte maturity rate, embryo cleavage rate and mean number of embryos transferred in AZFb, and a higher mean number of oocytes and lower fertilization rate in AZFc. In conclusion, although patients with AZFc microdeletions presented a high testicular sperm recovery rate and acceptable clinical outcomes, cases with AZFa and AZFb microdeletions presented a poor prognosis. Due to the reported heredity of microdeletions, patients should be informed about the infertile consequences on NB and the possibility of using preimplantation genetic diagnosis for female sex selection.

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Screening for partial AZFa microdeletions in the Y chromosome of infertile men: is it of clinical relevance?

Cited by 49 publications

References 27 publications

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

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

The sperm quality and clinical outcomes were not affected by sY152 deletion in Y chromosome for oligozoospermia or azoospermia men after ICSI treatment

Y-chromosome microdeletions in nonobstructive azoospermia and severe oligozoospermia

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