Spermatogenesis is one of the fundamental but at the same time also one of the most complex differentiation processes in higher eukaryotes. For a long time the development of spermatozoa has been considered as related solely to the needs of transfer of the paternal genome into the egg. Other paternal contributions to the development of the embryo were not seriously considered. Only recently has it become evident, from studies of mouse embryonic development by Solter and colleagues, that also the paternal genome carries regulatory information into the zygote since the development of a mouse embryo requires the presence of the maternal as well as of the paternal pronucleus. This means that we have to pay more attention to the development of male gametes, since the imprinting of the paternal genome obviously required for the early embryonic development must occur during male gamete development. Despite the fundamental character of sperm development as a cellular differentiation process, no coherent concepts for studies of this process exist. Many morphological, and in particular ultrastructural, details of sperm devel opment and sperm structure are known, but this knowledge has not been assembled into a consistent picture reflecting the basic features of this differ entiation process. One of the reasons for the failure to construct such a picture is the fact that also the genetics of sperm development is poorly developed. For elaborating concepts of early embryonic development the study of mutants has been, and still is, indispensible.

Infertility affects more than one in ten couples worldwide and is related to highly heterogeneous pathologies sometimes only discernible in the germ line. Its complex etiology often, but not always, includes genetic factors besides anatomical defects, immunological interference, and environmental aspects. Nearly 30% of infertility cases are probably caused only by genetic defects. Thereby experimental animal knockout models convincingly show that infertility can be caused by single or multiple gene defects. Translating those basic research findings into clinical studies is challenging, leaving genetic causes for the vast majority of infertility patients unexplained. Nevertheless, a large number of candidate genes have been revealed by sophisticated molecular methods. This book provides a comprehensive overview on the subject of infertility written by the leading authorities in this field. It covers topics including basic biological, cytological, and molecular studies, as well as common and uncommon syndromes. It is a must-read for human geneticists, endocrinologists, epidemiologists, zoologists, and counsellors in human genetics, infertility, and assisted reproduction.

Spermatogenesis involves the coordination of a number of signaling pathways, which culminate into production of sperm. Its failure results in male factor infertility, which can be due to hormonal, environmental, genetic or other unknown factors. This book includes chapters on most of the signaling pathways known to contribute to spermatogenesis. Latest research in germ cell signaling like the role of small RNAs in spermatogenesis is also discussed. This book aims to serve as a reference for both clinicians and researchers, explaining possible causes of infertility and exploring various treatment methods for management through the basic understanding of the role of molecular signaling. Key Features Discusses the signaling pathways that contribute to successful spermatogenesis Covers comprehensive information about Spermatogenesis at one place Explores the vital aspects of male fertility and infertility Explains the epigenetic regulation of germ cell development and fertility Highlights the translational opportunities in molecular signaling in testis

In this book, twenty-one researchers and clinicians review the study of the genetics of male infertility, the tools available in the laboratory and clinic, the current state of knowledge, and the future of research and translation into clinical diagnostics and treatments. New tools discussed are discussed. This book therefore serves as a guide to evidence-based clinical applications, and a preview of future possibilities.

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.

The new edition of this canonical text on male reproductive medicine will cement the book's market-leading position. Practitioners across many specialties - including urologists, gynecologists, reproductive endocrinologists, medical endocrinologists and many in internal medicine and family practice – will see men with suboptimal fertility and reproductive problems. The book provides an excellent source of timely, well-considered information for those training in this young and rapidly evolving field. While several recent books provide targeted 'cookbooks' for those in a male reproductive laboratory, or quick reference for practising generalists, the modern, comprehensive reference providing both a background for male reproductive medicine as well as clinical practice information based on that foundation has been lacking until now. The book has been extensively revised with a particular focus on modern molecular medicine. Appropriate therapeutic interventions are highlighted throughout.