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The Role of Reproductive Genetics in Modern Andrology

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Book cover Intracytoplasmic Sperm Injection

Abstract

Proper care of the infertile male includes a diagnosis of the underlying etiology and counseling regarding the known ramifications for the patient and potential offspring. This necessitates a thorough screening of potential genetic anomalies, including karyotype abnormalities, Y chromosome microdeletions, and relevant gene mutations. Additionally, the sperm may possess aneuploidies, independent of the patient’s somatic karyotype, or DNA strand breaks that can decrease the potential of successful embryogenesis. The novel field of sperm epigenetics has indicated that sperm epigenetic anomalies, in the form of DNA methylation, chromatin, and RNA alterations, can also affect fertility potential and may be moderated by lifestyle and environmental influences. These genetic anomalies not only affect the fertility of the patient, but may also be reflective of general health concerns in the patient and offspring.

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Abbreviations

CBAVD:

Congenital bilateral absence of the vas deferens

CFTR:

Cystic fibrosis transmembrane conductance regulator

CpGs:

Cytosine-phosphate-guanine dinucleotides

MicroTESE:

Micro-surgical testicular sperm extraction

NSS:

No sperm seen

YCMD:

Y chromosome microdeletion

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Authors and Affiliations

  1. Andrology & IVF Laboratory Division, Department of Surgery (Urology) and Human Genetics, University of Utah School of Medicine, Salt Lake City, UT, USA

    Douglas T. Carrell

  2. Department of Surgery (Urology Division), University of Utah School of Medicine, Salt Lake City, UT, USA

    Douglas T. Carrell, Timothy G. Jenkins, Benjamin R. Emery, James M. Hotaling & Kenneth I. Aston

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  1. Douglas T. Carrell
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  2. Timothy G. Jenkins
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  3. Benjamin R. Emery
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  4. James M. Hotaling
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  5. Kenneth I. Aston
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Correspondence to Douglas T. Carrell .

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Editors and Affiliations

  1. Center for Reproductive Medicine, Weill Cornell Medical College, New York, New York, USA

    Gianpiero D. Palermo

  2. Center for Advanced Genetics, San Clemente, California, USA

    E. Scott Sills

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Carrell, D.T., Jenkins, T.G., Emery, B.R., Hotaling, J.M., Aston, K.I. (2018). The Role of Reproductive Genetics in Modern Andrology. In: Palermo, G., Sills, E. (eds) Intracytoplasmic Sperm Injection. Springer, Cham. https://doi.org/10.1007/978-3-319-70497-5_3

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