Genetics of Human Infertility
1st Edition
Published on 12. September 2017
178 pages
978-3-318-06098-0 (ISBN)
Available for download
Description
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 ?ndings 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.
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P.H. Vogt
Genetics of Human Infertility
Book
09/2017
1st Edition
S. Karger
€168.00
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Content
- Cover
- Front Matter
- Contents
- Editorial
- Preface
- Genetic Basis of Male and Female Infertility
- Abstract
- Male Infertility
- Female Infertility
- Conclusion
- Acknowledgements
- References
- Genetics of Premature Ovarian Failure: New Developments in Etiology
- Abstract
- Nomenclature
- Chromosomal Anomalies in Premature Ovarian Failure
- Genes on the X Chromosome
- Genes on Autosomes
- Genes Causing Syndromic Premature Ovarian Failure
- Mitochondrial Dysfunction Resulting in Syndromic Premature Ovarian Failure
- Genome-Wide Association Studies and Copy Number Variants in Premature Ovarian Failure
- Conclusions
- Acknowledgements
- References
- Genetics of Klinefelter Syndrome: Experimental Exploration
- Abstract
- Diagnosis of Klinefelter Syndrome
- Morbidity and Mortality in Klinefelter Syndrome
- Mouse Models for the Experimental Exploration of Klinefelter Syndrome
- Genetic Aspects of Klinefelter Syndrome: Evidence from Clinical Studies
- X Inactivation and Escapee Genes
- Escapee Gene Expression: Lessons from the Mouse Model
- Consequences of the Supernumerary X Chromosome for the Male Phenotype
- Conclusion
- Acknowledgements
- References
- Human Y Chromosome and Male Infertility: Forward and Back from Azoospermia Factor Chromatin Structure to Azoospermia Factor Gene Function
- Abstract
- Impairment of Dynamic Azoospermia Factor Chromosome Structure in Men with Infertility
- AZFa Locus and Gene Deletions and Male Infertility
- AZFb Gene Deletions and Male Infertility
- AZFc Gene Deletions and Male Infertility
- Functional Aspects of the Testis-Specific LNC Transcripts ( TTTY ) in AZFa, AZFb, and AZFc
- References
- Genetics and Pathophysiology of the Cystic Fibrosis Transmembrane Conductance Regulator in Male Reproduction: New Evidence of a Direct Effect on the Male Germline
- Abstract
- CFTR: Structure, Function, and Pathophysiology
- The Genetics and Function of CFTR in the Male Genital Tract
- The Genetics and Function of CFTR in the Male Germline
- Patients Counselling and Infertility Treatment
- Conclusion
- References
- The Genetics of Androgen Receptor Signalling in Male Fertility
- Abstract
- The Androgen Receptor
- Mechanisms of Androgen Receptor Signalling
- Clinical Disorders Resulting from Mutations in the Androgen Receptor
- Use of Animal Models to Elucidate Roles of the Androgen Receptor in Male Fertility
- Extratesticular Roles of the Androgen Receptor in Fertility
- Conclusion
- References
- The Genetics of Postmeiotic Male Germ Cell Differentiation from Round Spermatids to Mature Sperm
- Abstract
- Male Germ Differentiation-Associated Male Infertility
- Control of Haploid Gene Expression
- Chromatin Remodeling during Spermiogenesis
- Formation of the Acrosome
- Development of Flagellum and Motility
- References
- The Epigenetics of Sperm Chromatin
- Abstract
- Epigenetic Events from Primordial Germ Cells to a Mature Differentiated Sperm
- Epigenetic Events from Fertilization to Early Embryonic Development
- Sperm Epigenetic Abnormalities and Their Clinical Aspects
- Conclusion
- References
- Characteristic Features of Male Germline Development in Primates
- Abstract
- The Totipotent and Pluripotent Stages of the Germline
- Embryonic Specification of Primordial Germ Cells in Primates and the Mouse
- The Role of the Amnion and the Extraembryonic Ectoderm
- Gonocytes and Spermatogonial Stem Cells
- Spermatogonial Stem Cell Culture
- Considering Potential Limitations of Mouse Models of Human Male Infertility
- The Genome Perspective: Primate-Specific Genes and Mobile Elements
- The Haploid Phase of the Germline
- Conclusion and Outlook
- Acknowledgements
- References
- Genetic and Epigenetic Mouse Models of Human Male Infertility
- Abstract
- Genetic Engineering of Mouse Models to Study Spermatogenesis
- Genetic Aberrations in Primary Male Infertility - Benefits and Limitations of Mouse Models
- Epimutations as Causes of Primary Male Infertility? What Mouse Models Teach Us about Abnormal Epigenetic Profiles in Male Germ Cells
- Conclusions
- References
- In vitro Spermatogenesis and Its Potential Clinical Implication for Patients
- Abstract
- A Century of Search for the Right Setting:A Historical View of Cell Culture Approaches Designed for the Differentiation of Male Germ Cells
- Clinical Implications for in vitro Spermatogenesis
- Fertility Preservation and Childhood Cancer: An Example of the Need for in vitro Spermatogenesis in Clinics
- Conclusion
- References
- Author Index
- Subject Index
- Cover
