EAA/EMQN best practice guidelines for molecular diagnosis of Y‐chromosomal microdeletions: state of the art 2023

Detalhes bibliográficos
Autor(a) principal: Krausz, Csilla
Data de Publicação: 2023
Outros Autores: Navarro-Costa, Paulo, Wilke, Martina, Tüttelmann, Frank
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10451/59357
Resumo: © 2023 The Authors. Andrology published by Wiley Periodicals LLC on behalf of American Society of Andrology and European Academy of Andrology. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
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spelling EAA/EMQN best practice guidelines for molecular diagnosis of Y‐chromosomal microdeletions: state of the art 2023AZFY chromosome microdeletionAzoospermiaGr/gr deletionHuman geneticsMale infertilityOligozoospermiaQuality controlSpermatogenesis© 2023 The Authors. Andrology published by Wiley Periodicals LLC on behalf of American Society of Andrology and European Academy of Andrology. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.Testing for AZoospermia Factor (AZF) deletions of the Y chromosome is a key component of the diagnostic workup of azoospermic and severely oligozoospermic men. This revision of the 2013 European Academy of Andrology (EAA) and EMQN CIC (previously known as the European Molecular Genetics Quality Network) laboratory guidelines summarizes recent clinically relevant advances and provides an update on the results of the external quality assessment program jointly offered by both organizations. A basic multiplex PCR reaction followed by a deletion extension analysis remains the gold-standard methodology to detect and correctly interpret AZF deletions. Recent data have led to an update of the sY84 primer sequences, as well as to a refinement of what were previously considered as interchangeable border markers for AZFa and AZFb deletion breakpoints. More specifically, sY83 and sY143 are no longer recommended for the deletion extension analysis, leaving sY1064 and sY1192, respectively, as first-choice markers. Despite the transition, currently underway in several countries, toward a diagnosis based on certified kits, it should be noted that many of these commercial products are not recommended due to an unnecessarily high number of tested markers, and none of those currently available are, to the best of our knowledge, in accordance with the new first-choice markers for the deletion extension analysis. The gr/gr partial AZFc deletion remains a population-specific risk factor for impaired sperm production and a predisposing factor for testicular germ cell tumors. Testing for this deletion type is, as before, left at the discretion of the diagnostic labs and referring clinicians. Annual participation in an external quality control program is strongly encouraged, as the 22-year experience of the EMQN/EAA scheme clearly demonstrates a steep decline in diagnostic errors and an improvement in reporting practice.Paulo Navarro-Costa is partially supported by Fundação para a Ciência e a Tecnologia (grant EXPL/MEC-AND/0676/2021). Csilla Krausz and Frank Tuettelmann belong to COST Action CA20119 (ANDRONET) which is supported by the European Cooperation in Science and Technology (www.cost.eu).WileyRepositório da Universidade de LisboaKrausz, CsillaNavarro-Costa, PauloWilke, MartinaTüttelmann, Frank2023-09-18T13:16:08Z20232023-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10451/59357engAndrology. 2023 Sep 62047-291910.1111/andr.135142047-2927info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-11-08T17:08:23Zoai:repositorio.ul.pt:10451/59357Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T22:09:17.126302Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv EAA/EMQN best practice guidelines for molecular diagnosis of Y‐chromosomal microdeletions: state of the art 2023
title EAA/EMQN best practice guidelines for molecular diagnosis of Y‐chromosomal microdeletions: state of the art 2023
spellingShingle EAA/EMQN best practice guidelines for molecular diagnosis of Y‐chromosomal microdeletions: state of the art 2023
Krausz, Csilla
AZF
Y chromosome microdeletion
Azoospermia
Gr/gr deletion
Human genetics
Male infertility
Oligozoospermia
Quality control
Spermatogenesis
title_short EAA/EMQN best practice guidelines for molecular diagnosis of Y‐chromosomal microdeletions: state of the art 2023
title_full EAA/EMQN best practice guidelines for molecular diagnosis of Y‐chromosomal microdeletions: state of the art 2023
title_fullStr EAA/EMQN best practice guidelines for molecular diagnosis of Y‐chromosomal microdeletions: state of the art 2023
title_full_unstemmed EAA/EMQN best practice guidelines for molecular diagnosis of Y‐chromosomal microdeletions: state of the art 2023
title_sort EAA/EMQN best practice guidelines for molecular diagnosis of Y‐chromosomal microdeletions: state of the art 2023
author Krausz, Csilla
author_facet Krausz, Csilla
Navarro-Costa, Paulo
Wilke, Martina
Tüttelmann, Frank
author_role author
author2 Navarro-Costa, Paulo
Wilke, Martina
Tüttelmann, Frank
author2_role author
author
author
dc.contributor.none.fl_str_mv Repositório da Universidade de Lisboa
dc.contributor.author.fl_str_mv Krausz, Csilla
Navarro-Costa, Paulo
Wilke, Martina
Tüttelmann, Frank
dc.subject.por.fl_str_mv AZF
Y chromosome microdeletion
Azoospermia
Gr/gr deletion
Human genetics
Male infertility
Oligozoospermia
Quality control
Spermatogenesis
topic AZF
Y chromosome microdeletion
Azoospermia
Gr/gr deletion
Human genetics
Male infertility
Oligozoospermia
Quality control
Spermatogenesis
description © 2023 The Authors. Andrology published by Wiley Periodicals LLC on behalf of American Society of Andrology and European Academy of Andrology. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
publishDate 2023
dc.date.none.fl_str_mv 2023-09-18T13:16:08Z
2023
2023-01-01T00:00:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10451/59357
url http://hdl.handle.net/10451/59357
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Andrology. 2023 Sep 6
2047-2919
10.1111/andr.13514
2047-2927
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Wiley
publisher.none.fl_str_mv Wiley
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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