The Genetic Basis of Male Infertility

Clinical Aspects of Male Infertility.- 1 Introduction.- 2 The Elements of Standard Medical Workup.- 3 Aetiology of Male Infertility.- 4 Infertility Due to Genetic Disorders.- 5 Monogenic Diseases.- 6 Clinical Considerations of Genetic Abnormalities.- 7 Treatment of the Infertile Male.- References.- The Cell Biology and Molecular Genetics of Testis Determination.- 1 Introduction.- 2 Human Sex Determination is Chromosomally Based.- 3 Gonadal Sex Differentiation.- 4 The Testis-Determining Factor (TDF).- 5 The SOX9 Gene and Testis Determination.- 6 Orphan Nuclear Receptors and Sex Determination.- 7 Summary: A Genetic Cascade for Testis Determination.- References.- The Sertoli Cell-Germ Cell Interactions and the Seminiferous Tubule Interleukin-1 and Interleukin-6 System.- 1 Organisation of the Testis.- 2 Endocrine Regulation of Testicular Function.- 3 Paracrine Regulation of Testicular Function.- 4 Conclusion.- References.- Leydig Cell Function and Its Regulation.- 1 Introduction.- 2 Leydig Cell Morphology and Endocrine Function.- 3 Leydig Cell Development.- 4 Molecular Regulation of the Leydig Cell.- 5 Extrinsic Regulation of the Leydig Cell by Factors Other than LH.- 6 Leydig Cell Function and Infertility.- References.- Post-Transcriptional Control and Male Infertility.- 1 Introduction.- 2 The Need for Translational Control.- 3 Regulatory Elements in Untranslated Sequences.- 4 The Protamine mRNA Is Stored in a Ribonucleoprotein Particle.- 5 Sequence-Specific RNA Binding Proteins.- 6 Premature Translation of Prm1 mRNA.- 7 Activation of Translationally Repressed mRNAs.- 8 Orphan RNA Binding Proteins.- 9 Perspectives.- References.- An Integration of Old and New Perspectives of Mammalian Meiotic Sterility.- 1 Introduction.- 2 Sterility from a "Process-Oriented"Perspective.- 3 Sterility from the Perspective of Cell Cycle Checkpoint Control.- 4 Summary and Conclusions.- References.- Mutations of the Cystic Fibrosis Gene and Congenital Absence of the Vas Deferens.- 1