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Genetic Evaluation of Male Infertility

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Genetics of Male Infertility

Abstract

Male infertility affects 7% of all men worldwide, yet for the majority the underlying cause is not found. From the very first identified karyotyping abnormalities to the very recent discovery of point mutations disrupting spermatogenesis, it is clear that a substantial number of patients suffer from genetic abnormalities. However, the discovery of these causes has largely been limited by the resolutions of the technologies used for patient assessment. In recent years, the advent of better tools and more comprehensive databases of genetic variations has led to profound discoveries of genes and pathways underlying male infertility. This chapter reviews these technologies and the discoveries they have led to and sets the scene for the transformation of infertile patient care in the era of next-generation sequencing.

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Authors and Affiliations

  1. Department of Genetic Medicine, Weill Cornell Medicine – Qatar, Doha, Qatar

    Khalid A. Fakhro & Amal Robay

  2. Human Genetics Department, Sidra Medicine, Doha, Qatar

    Khalid A. Fakhro

  3. Department of Genetic Medicine, Weill Cornell Medical College, New York, NY, USA

    Juan L. Rodriguez-Flores & Ronald G. Crystal

Authors
  1. Khalid A. Fakhro
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  2. Amal Robay
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  3. Juan L. Rodriguez-Flores
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  4. Ronald G. Crystal
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Corresponding author

Correspondence to Ronald G. Crystal .

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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Fakhro, K.A., Robay, A., Rodriguez-Flores, J.L., Crystal, R.G. (2020). Genetic Evaluation of Male Infertility. 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_6

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  • DOI: https://doi.org/10.1007/978-3-030-37972-8_6

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