Male infertility: Pathogenesis and clinical diagnosis

Krausz, Csilla

doi:10.1016/j.beem.2010.08.006

Cited by 420 publications

(345 citation statements)

References 80 publications

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“…Finally, in our view, gr/gr deletion screening can be considered as part of the diagnostic work-up of idiopathic oligozoospermic men as it is a confirmed cofactor that contributes to impaired sperm production. 41 On the contrary, in line with the Italian data, partial AZFc duplication is unlikely to be involved in the etiopathogenesis of spermatogenic impairment in Caucasian populations.…”

Section: -124mentioning

confidence: 56%

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: -124mentioning

confidence: 56%

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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“…Further, the occurrence and type of microdeletion correlates with testicular phenotype and is a good predictor of sperm retrieval during Testicular Sperm Aspiration or TESA [15]. Also, oligozoospermic men with microdeletions have been reported to progress to azoopsermia over time [1,9,13], higher incidence of poor quality embryos has been observed in couples where the male partner has microdeletions [35].…”

Section: Introductionmentioning

confidence: 99%

Y chromosome microdeletions in infertile men: prevalence, phenotypes and screening markers for the Indian population

Sen

Pasi

Dada

et al. 2013

J Assist Reprod Genet

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Purpose Yq microdeletions are the leading genetic cause of male infertility and its detection is clinically relevant for appropriate genetic counseling. We aimed to determine the prevalence and type of Yq microdeletions, the associated seminal phenotypes and the STS markers that are relevant for its testing in Indian population. Methods Yq microdeletion analysis was carried out in 1,636 infertile cases in our centers. Additional data was collected from published studies in Indian population leading to a total of 3,647 cases. Results In our cohort, 3.4 % (56/1,636) of infertile men had Yq microdeletions. Combining the data from other published studies identified 215/3,647 (5.8 %) infertile individuals to harbor Yq microdeletions; with 6.4 % in azoopsermia, 5.8 % in oligozoospermia and 3.2 % in oligoasthenozoospermia and teratozoospermia cases. No significant differences in the deletion frequencies were observed between idiopathic vs non idiopathic cases (5.8 vs 8.6 % respectively). Deletions of AZFc were at highest frequency (46.6 %) with double deletions most commonly observed in azoospermic subjects. With respect to the STS markers, screening with the six European Academy of Andrology (EAA) markers would miss 3

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“…This is higher than the reported general population rate of 7% of males of reproductive age who reported having infertility issues (Krausz 2011). Similarly, 29 males (29/128, 22.7%) reported seeking an infertility evaluation to address specific male infertility issues (Table 5).…”

Section: Infertility In Malesmentioning

confidence: 74%

The Impact of Fabry Disease on Reproductive Fitness

et al. 2017

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Fabry disease (FD) is a pan-ethnic, X-linked, progressive lysosomal storage disorder caused by pathogenic mutations in the GLA gene. Published case reports and abstracts suggest that decreased reproductive fitness may occur in males with FD. In order to understand the impact of FD on reproductive fitness and increase the accuracy of reproductive genetic counseling, this study examines a large, multi-centered population of individuals with FD to determine if males have reduced reproductive fitness. Study data were collected on 376 patients through two, gender-specific surveys distributed across the United States and Canada. The number of biological live-born children among individuals with FD was compared to statistics from the general population. Information was also collected on reduced sperm count, depression, pain, use of assisted reproductive technology, and reproductive choice. On average, females affected by FD had more biological live-born children (1.8) than males affected by FD (1.1). However, males affected by FD had an increased mean number of biological children (1.1) compared to the mean number of biological children fathered by men in the United States (0.9). Sixteen of the 134 males with FD reported oligospermia, which suggests that an infertility work up may be indicated for males having difficulty impregnating their partners. In our large multicenter sample, males and females with FD do not exhibit reduced reproductive fitness; on average they have more biological children than the general population in the United States. This information should assist clinicians in providing accurate reproductive genetic counseling and treatment for individuals with FD.

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Male infertility: Pathogenesis and clinical diagnosis

Cited by 420 publications

References 80 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

Y chromosome microdeletions in infertile men: prevalence, phenotypes and screening markers for the Indian population

The Impact of Fabry Disease on Reproductive Fitness

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