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Anomalies of the Y Chromosome

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Genetics of Male Infertility

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Abstract

Genetic abnormalities may be associated with problems in the production and transport of sperm and may be present in the form of chromosomal, genetic, nucleotide, or epigenetic modifications and may represent one of the most clinically important aspects of male factor infertility. When compared to fertile men, patients with nonobstructive azoospermia or severe oligozoospermia (<5 million/mL) have a higher risk of presenting with a genetic abnormality. However, even when considering that many azoospermic and oligozoospermic patients present with a genetic predisposition to infertility, the cause (in most cases) remains unknown. Although rare in the general population, Y-chromosome microdeletions may be present in up to 7% of severe oligozoospermic and in approximately 15% of azoospermic men. In general, patients presenting with a Y-chromosome microdeletion are asymptomatic, although they may present with a reduction in testicular volume. Sperm retrieval procedures should be avoided in AZFa patients, and there is controversy as to whether it should be performed in AZFb and AZFbc patients; further, sperm can be found in around 50–70% of patients with AZFc. Performing ICSI procedures with sperm from patients presenting with Y-chromosome microdeletion does not increase the risk of complications to the offspring.

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Author information

Authors and Affiliations

  1. Department of Reproductive Medicine, Mater Prime – Reproductive Medicine, São Paulo, Brazil

    Matheus Roque

  2. Department of Reproductive Medicine, ORIGEN-Center for Reproductive Medicine, Rio de Janiero, Brazil

    Igor Faria Dutra

  3. Department of Surgery, Division of Urology, Antonio Pedro University Hospital, Fluminense Federal University, Rio de Janiero, Brazil

    Igor Faria Dutra

Authors
  1. Matheus Roque
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  2. Igor Faria Dutra
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Editor information

Editors and Affiliations

  1. Department of Urology, Hamad Medical Corporation, Doha, Qatar

    Mohamed Arafa

  2. Department of Urology, Hamad Medical Corporation, Doha, Qatar

    Haitham Elbardisi

  3. Department of Urology, Hamad Medical Corporation, Doha, Qatar

    Ahmad Majzoub

  4. Cleveland Clinic, Cleveland, OH, USA

    Ashok Agarwal

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Roque, M., Dutra, I.F. (2020). Anomalies of the Y Chromosome. In: Arafa, M., Elbardisi, H., Majzoub, A., Agarwal, A. (eds) Genetics of Male Infertility. Springer, Cham. https://doi.org/10.1007/978-3-030-37972-8_14

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  • DOI: https://doi.org/10.1007/978-3-030-37972-8_14

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-37971-1

  • Online ISBN: 978-3-030-37972-8

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