A High Frequency of Y Chromosome Deletions in Males With Nonidiopathic Infertility

Krausz, Csilla; Barbaux, Sandrine; Siffroi, Jean‐Pierre; Rafiey, Hassan; Delafontaine, D; Therville, Nicole; Arvis, G; Antoine, J. M.; Erdei, E.; Taar, J.P.; Tar, Attila; Jeandidier, Éric; Plessis, Ghislaine; Bourgeron, Thomas; Dadoune, J. P.; Fellous, Marc; McElreavey, Ken

doi:10.1097/00006254-200003000-00020

Cited by 13 publications

(17 citation statements)

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“…Microdeletions in nonidiopathic infertility have been reported in the literature at a rather high frequency Krausz et al, 1999b; the present study). The deterioration of sperm parameters might be accelerated in patients with microdeletions associated with varicoceles, such as patient P175, reinforcing the need for AZF microdeletion screening and follow-up of these infertile men.…”

Section: Discussionsupporting

confidence: 53%

A Cost-Effective Screening Test for Detecting AZF Microdeletions on the Human Y Chromosome

Pieri

Pereira²,

Glina

et al. 2002

Genetic Testing

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Section: Discussionsupporting

confidence: 53%

A Cost-Effective Screening Test for Detecting AZF Microdeletions on the Human Y Chromosome

Pieri

Pereira²,

Glina

et al. 2002

Genetic Testing

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“…Although some authors found an extraordinary high frequency of single AZF gene deletions (Ferlin et al ., ; Foresta et al ., ), these data are in stark contrast with the general experience accumulated in >2000 patients tested elsewhere (Silber et al ., ; Sun et al ., ; Krausz et al ., ,b; Krausz et al ., ; Simoni et al ., ). Gene‐specific deletions are extremely rare, and all the five confirmed deletions (with the definition of the breakpoints) removed totally or partially the USP9Y gene belonging to the AZFa region (Tyler‐Smith & Krausz, ).…”

Section: Mechanism and Type Of Deletionsmentioning

confidence: 99%

EAA/EMQN best practice guidelines for molecular diagnosis of Y‐chromosomal microdeletions: state‐of‐the‐art 2013

et al. 2013

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The molecular diagnosis of Y-chromosomal microdeletions is a common routine genetic test which is part of the diagnostic workup of azoospermic and severe oligozoospermic men. Since 1999, the European Academy of Andrology (EAA) and the European Molecular Genetics Quality Network (EMQN) have been actively involved in supporting the improvement of the quality of the diagnostic assays by publication of the laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions and by offering external quality assessment trials. The present revision of the 2004 laboratory guidelines summarizes all the clinical novelties related to the Y chromosome (classic, partial and gene-specific deletions, genotype–phenotype correlations, methodological issues) and provides an update on the results of the quality control programme. These aspects also reflect the consensus of a large group of specialists present at a round table session during the recent Florence-Utah-Symposium on ‘Genetics of male infertility’ (Florence, 19–21 September, 2013). During the last 10 years the gr/gr deletion has been demonstrated as a significant risk factor for impaired sperm production. However, the screening for this deletion type in the routine diagnostic setting is still a debated issue among experts. The original basic protocol based on two multiplex polymerase chain reactions remains fully valid and appropriate for accurate diagnosis of complete AZF deletions and it requires only a minor modification in populations with a specific Y chromosome background. However, in light of novel data on genotype–phenotype correlations, the extension analysis for the AZFa and AZFb deletions is now routinely recommended. Novel methods and kits with excessively high number of markers do not improve the sensitivity of the test, may even complicate the interpretation of the results and are not recommended. Annual participation in an external quality control programme is strongly encouraged. The 12-year experience with the EMQN/EAA scheme has shown a steep decline in diagnostic (genotyping) error rate and a simultaneous improvement on reporting practice.

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“…We studied four different populations using a similar set of markers and similar clinical criteria for the definition of patients. It was demonstrated that the main factor influencing deletion frequency is the composition of the study population (highest frequency found in the two studies with the largest number of azoospermic men included) rather than the ethnic origin of a given population (Krausz et al. , 1999a,b, 2001a, 2003).…”

Section: Clinical Significance Of Y Deletionsmentioning

confidence: 99%

“…Deletions have also been found (7%) as ‘chance association’ in the presence of other abnormal andrological findings such as varicocele, cryptorchidism, hypogonadotrophic hypogonadism, etc. (Krausz et al. , 1999b).…”

Section: Clinical Significance Of Y Deletionsmentioning

confidence: 99%

Y chromosome and male infertility

Krausz

2005

Andrologia

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A High Frequency of Y Chromosome Deletions in Males With Nonidiopathic Infertility

Cited by 13 publications

References 0 publications

A Cost-Effective Screening Test for Detecting AZF Microdeletions on the Human Y Chromosome

A Cost-Effective Screening Test for Detecting AZF Microdeletions on the Human Y Chromosome

EAA/EMQN best practice guidelines for molecular diagnosis of Y‐chromosomal microdeletions: state‐of‐the‐art 2013

Y chromosome and male infertility

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