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Genetics of Male Infertility

A Case-Based Guide for Clinicians

  • Book
  • © 2020

Overview

Editors:
  1. Mohamed Arafa

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

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  2. Haitham Elbardisi

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

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  3. Ahmad Majzoub

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

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  4. Ashok Agarwal

    1. Cleveland Clinic, Cleveland, USA

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  • A comprehensive and case-based overview of the genetic basis of male infertility, discussing molecular bases and consequences of genetic abnormalities

  • Presents current clinical tools for diagnosis and management of male genetic abnormalities affecting fertility, including algorithms for patient counseling

  • An essential guide for reproductive medicine specialists, andrologists, urologists and all clinicians treating infertile patients

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Table of contents (22 chapters)

  1. Front Matter

    Pages i-xvii
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  2. The Genetic Basis of Reproduction

    1. Front Matter

      Pages 1-1
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    2. The Molecular Genetics of Testis Determination

      • Neha Singh, Deepak Modi
      Pages 3-17

    3. Molecular Regulation of Sperm Production Cascade

      • Meghali Joshi, Rajender Singh
      Pages 19-37

    4. Spermatozoal Chromatin Structure: Role in Sperm Functions and Fertilization

      • Sara Marchiani, Lara Tamburrino, Monica Muratori, Elisabetta Baldi
      Pages 39-55

    5. Genetic Basis of Endocrine Regulation of Spermatogenesis

      • Julie W. Cheng, Edmund Y. Ko
      Pages 57-71

    6. Epidemiology of Genetic Disorders in Male Infertility

      • Marlon P. Martinez, Haitham Elbardisi, Ahmad Majzoub, Mohamed Arafa
      Pages 73-94

    7. Genetic Evaluation of Male Infertility

      • Khalid A. Fakhro, Amal Robay, Juan L. Rodriguez-Flores, Ronald G. Crystal
      Pages 95-118

  3. Impact of Genetics on the Sperm Cell

    1. Front Matter

      Pages 119-119
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    2. Genetic Basis of Sperm Morphologic Defects: Head Defects and Body and Tail Defects

      • Vineet Malhotra
      Pages 121-136

    3. Mitochondrial Function and Male Infertility

      • David Fisher, Ralf Henkel
      Pages 137-153

    4. Sperm DNA Fragmentation and Male Infertility

      • Manesh Kumar Panner Selvam, Pallav Sengupta, Ashok Agarwal
      Pages 155-172

    5. The Sperm Epigenome and Potential Implications for the Developing Embryo

      • Emma Rae James, Timothy G. Jenkins, Douglas T. Carrell
      Pages 173-185

  4. Clinical Case Scenarios

    1. Front Matter

      Pages 187-187
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    2. Klinefelter Syndrome

      • Marlon P. Martinez, Haitham Elbardisi, Ahmad Majzoub, Mohamed Arafa
      Pages 189-205

    3. Chromosomal Translocations and Inversion in Male Infertility

      • Kareim Khalafalla, Pallav Sengupta, Mohamed Arafa, Ahmad Majzoub, Haitham Elbardisi
      Pages 207-219

    4. Genetics of Vas Aplasia

      • Rahul Krishnaji Gajbhiye, Shagufta Khan, Rupin Shah
      Pages 221-234

    5. Anomalies of the Y Chromosome

      • Matheus Roque, Igor Faria Dutra
      Pages 235-244

    6. Infertility and Cryptorchidism

      • Joshua Bitran, Simon Dadoun, Ranjith Ramasamy
      Pages 245-255

    7. Kartagener and Immotile Cilia Syndrome

      • Igor Faria Dutra, Matheus Roque
      Pages 257-267
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Keywords

About this book

This unique, case-based guide provides a thoughtful and comprehensive overview of the genetic basis of male infertility for the practicing clinician. In addition to discussing the molecular foundations of sperm production and the consequences of genetic abnormalities on various stages of sperm development, it examines the clinical aspects of acknowledged genetic disorders and their implications on male fertility. In so doing, it offers the necessary tools required by the clinician for the diagnosis and treatment of infertile men with genetic abnormalities. Moreover, it provides essential algorithms that may aid in counseling patients in the clinic.


The text is arranged in four thematic sections for easy reference. The genetic foundation of male reproduction is presented in part 1, including regulation of sperm production, the structure of sperm chromatin, and spermatogenesis. The impact of genetic abnormalities on male infertility is the subject of part 2, covering sperm defects, mitochondrial function and DNA fragmentation. The clinical case material in part 3 illustrates real-world examples of genetic etiologies and the current diagnostic and therapeutic strategies for conditions such as vas asplasia, cryptorchidism, immotile cilia syndrome, sperm aneuploidy and other challenging scenarios. Casting forward, the fourth and final section presents an overview of future possibilities for management of genetic causes of male infertility, including gene editing.


Fully exploring the clinical context of these genetic conditions in a practical manner that appeals to the practicing clinician, Genetics of Male Infertility is an exciting and essential text for reproductive medicine specialists, andrologists, urologists, researchers and all other clinicians treating infertile patients. 

Editors and Affiliations

  • Department of Urology, Hamad Medical Corporation, Doha, Qatar

    Mohamed Arafa, Haitham Elbardisi, Ahmad Majzoub

  • Cleveland Clinic, Cleveland, USA

    Ashok Agarwal

About the editors

Mohamed Arafa, MD, Department of Andrology, Cairo University, Cairo, Egypt; Department of Urology, Hamad Medical Corporation, Doha, Qatar; Department of Urology, Weill Cornell Medicine – Qatar, Doha, Qatar
 
Haitham Elbardisi, MD, Department of Urology, Hamad Medical Corporation, Doha, Qatar; Department of Urology, Weill Cornell Medicine – Qatar, Doha, Qatar
 
Ahmad Majzoub, MD, Department of Urology, Hamad Medical Corporation, Doha, Qatar; Department of Urology, Weill Cornell Medicine – Qatar, Doha, Qatar


Ashok Agarwal, PhD, HCLD, American Center for Reproductive Medicine, Department of Urology, Cleveland Clinic, Cleveland, OH, USA

Bibliographic Information

  • Book Title: Genetics of Male Infertility

  • Book Subtitle: A Case-Based Guide for Clinicians

  • Editors: Mohamed Arafa, Haitham Elbardisi, Ahmad Majzoub, Ashok Agarwal

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

  • Publisher: Springer Cham

  • eBook Packages: Medicine, Medicine (R0)

  • Copyright Information: Springer Nature Switzerland AG 2020

  • Hardcover ISBN: 978-3-030-37971-1Published: 15 March 2020

  • Softcover ISBN: 978-3-030-37974-2Published: 15 March 2021

  • eBook ISBN: 978-3-030-37972-8Published: 14 March 2020

  • Edition Number: 1

  • Number of Pages: XVII, 375

  • Number of Illustrations: 3 b/w illustrations, 51 illustrations in colour

  • Topics: Reproductive Medicine, Andrology, Human Genetics

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