Bookedited by Mohamed Arafa, Haitham Elbardisi, Ahmad Majzoub, Ashok Agarwal.
Summary: 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.
Contents:
Part I: The Genetic Basis of Reproduction
The Molecular Genetics of Testis Determination
Molecular Regulation of Sperm Production Cascade
Spermatozoal Chromatin Structure: Role in Sperm Functions and Fertilization
Genetic Basis of Endocrine Regulation of Spermatogenesis
Epidemiology of Genetic Disorders in Male Infertility
Genetic Evaluation of Male Infertility
Part II: Impact of Genetics on the Sperm Cell
Genetic Basis of Sperm Morphologic Defects: Head Defects, Body and Tail Defects
Mitochondrial Function and Male Infertility
Sperm DNA Fragmentation and Male Infertility
The Sperm Epigenome and Potential Implications for the Developing Embryo
Part III: Clinical Case Scenarios
Klinefelter Syndrome
Chromosomal Translocations and Inversion in Male Infertility
Genetics of Vas Aplasia
Anomalies of the Y Chromosome
Infertility and Cryptorchidism
Kartagener and Immotile Cilia Syndrome
Persistent Müllerian Duct Syndrome
Disorders of Sex Determination
Endocrine Genetic Defects
Sperm Aneuploidy
Part IV: Genetic Infertility: Is There Any Hope?- Sperm DNA Fragmentation
The Potential of CRISPR/Cas Gene Editing to Correct Male Infertility.