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Genetic Basis of Unexplained Male Infertility

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Unexplained Infertility

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Abstract

Approximately 12 % of the subfertile males attending our tertiary center for male reproduction, in which all male partners undergo andrological examination regardless of semen analyses results, are classified as having infertility of unknown origin. In several of these cases, etiologies may be is gene related including chromosomal defects, gene mutations, DNA damage, sperm chromosomal abnormalities, and epigenetic disorders. In this chapter, we review the basic genetic concepts to provide an overview of relevant points to be considered when assessing genetic causes of unexplained male infertility. In addition, we present the genetic conditions that may impair fertility without affecting semen analysis results, and the diagnostic methods to identify these disorders. Finally, we propose a genetic workup plan to better evaluate and counsel males with unexplained infertility (UI), and therefore provide an oriented therapeutic choice.

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Acknowledgment

The authors are grateful to Fabiola C. Bento for her help in language revision.

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Authors and Affiliations

  1. ANDROFERT, Andrology and Human Reproduction Clinic, Referral Center for Male Reproduction, Avenida Dr. Heitor Penteado, 1464, 13075-460, Campinas, SP, Brazil

    Ricardo Miyaoka MD & Sandro C. Esteves

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  1. Ricardo Miyaoka MD
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  2. Sandro C. Esteves
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Correspondence to Ricardo Miyaoka MD .

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Editors and Affiliations

  1. Ronald O. Perelman and Claudia Cohen Center for Reproductive Medicine, Weill Cornell Medical College, New York, New York, USA

    Glenn L. Schattman

  2. Andrology and Human Reproduction Clinic Referral Center for Male Reproduction, ANDROFERT, Campinas, São Paulo, Brazil

    Sandro C. Esteves

  3. Andrology Center & Center for Reproductive Medicine, Lerner College of Medicine Case Western Reserve University, Cleveland, Ohio, USA

    Ashok Agarwal

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Miyaoka, R., Esteves, S. (2015). Genetic Basis of Unexplained Male Infertility. In: Schattman, G., Esteves, S., Agarwal, A. (eds) Unexplained Infertility. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2140-9_8

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