Genetic testing for men with infertility: techniques and indications

Genetic testing is an integral component in the workup of male infertility as genetic conditions may be responsible for up to 15% of all cases. Currently, three genetic tests are commonly performed and recommended by major urologic associations: karyotype analysis (KA), Y-chromosome microdeletion te...

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Detalles Bibliográficos
Autores principales: Pelzman, Daniel L., Hwang, Kathleen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2021
Materias:
Review Article on Genetic Causes and Management of Male Infertility
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8039607/
https://www.ncbi.nlm.nih.gov/pubmed/33850771
http://dx.doi.org/10.21037/tau-19-725
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author Pelzman, Daniel L.
Hwang, Kathleen
author_facet Pelzman, Daniel L.
Hwang, Kathleen
author_sort Pelzman, Daniel L.
collection PubMed
description Genetic testing is an integral component in the workup of male infertility as genetic conditions may be responsible for up to 15% of all cases. Currently, three genetic tests are commonly performed and recommended by major urologic associations: karyotype analysis (KA), Y-chromosome microdeletion testing, and CFTR mutation testing. Despite widespread adoption of these tests, an etiology for infertility remains elusive in up to 80% of cases. Recent work has identified intriguing new targets for genetic testing which may soon see clinical relevance. This review will discuss the indications and techniques for currently offered genetic tests and briefly explore ongoing research directions within this field.
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spelling pubmed-80396072021-04-12 Genetic testing for men with infertility: techniques and indications Pelzman, Daniel L. Hwang, Kathleen Transl Androl Urol Review Article on Genetic Causes and Management of Male Infertility Genetic testing is an integral component in the workup of male infertility as genetic conditions may be responsible for up to 15% of all cases. Currently, three genetic tests are commonly performed and recommended by major urologic associations: karyotype analysis (KA), Y-chromosome microdeletion testing, and CFTR mutation testing. Despite widespread adoption of these tests, an etiology for infertility remains elusive in up to 80% of cases. Recent work has identified intriguing new targets for genetic testing which may soon see clinical relevance. This review will discuss the indications and techniques for currently offered genetic tests and briefly explore ongoing research directions within this field. AME Publishing Company 2021-03 /pmc/articles/PMC8039607/ /pubmed/33850771 http://dx.doi.org/10.21037/tau-19-725 Text en 2021 Translational Andrology and Urology. All rights reserved. https://creativecommons.org/licenses/by-nc-nd/4.0/Open Access Statement: This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0 (https://creativecommons.org/licenses/by-nc-nd/4.0/) .
spellingShingle Review Article on Genetic Causes and Management of Male Infertility
Pelzman, Daniel L.
Hwang, Kathleen
Genetic testing for men with infertility: techniques and indications
title Genetic testing for men with infertility: techniques and indications
title_full Genetic testing for men with infertility: techniques and indications
title_fullStr Genetic testing for men with infertility: techniques and indications
title_full_unstemmed Genetic testing for men with infertility: techniques and indications
title_short Genetic testing for men with infertility: techniques and indications
title_sort genetic testing for men with infertility: techniques and indications
topic Review Article on Genetic Causes and Management of Male Infertility
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8039607/
https://www.ncbi.nlm.nih.gov/pubmed/33850771
http://dx.doi.org/10.21037/tau-19-725
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