There have been many exciting advances in our understanding of mammalian sex determination and differentiation in the last decade. Using these advances to elucidate clinical conditions of abnormal sexual development, the authors bring together great expertise in molecular endocrinology,
molecular genetics, and dysmorphology. The text begins with a discussion of normal gonadal and sexual development that presents enough embryology, biochemistry, and endocrinology to make the remaining chapters easy to assimilate. Then the authors discuss overarching clinical issues that are common
to genetic abnormalities of gonadal and sexual development, providing a detailed account of genetic causes of gonadal maldevelopment, followed by a compendium of the singular, syndromal, endocrinologic, and systemic-metabolic genetic causes of sexual maldevelopment. The final section describes
genetic forms of gamete failure.
Seldom dogmatic, this unconventional textbook frequently presents alternatives, highlights speculation, raises questions, and attempts to provide answers. Yet it will be a uniquely valuable reference on an area of genetic medicine where much has happened in recent years. This book will be welcomed
by medical geneticists, genetic counselors, endocrinologists, gynecologists, urologists, and students who need fully-referenced information about the genetic aspects of humans sexual maldevelopment in order to better manage their patients and their patients families.
Inhaltsverzeichnis
- Part 1: Normal Gonadal and Sexual Development
- 1: The Embryology of Normal Gonadal Development
- 2: Sex Chromosome and Autosome Contributions to Normal Gonadal Development
- 3: Introductory Biochemistry and Endocrinology of Sexual Development
- Part II: Clinical Approach
- 4: The Clinical Apporach to Genetic Abnormalities of Gonadal and Sexual Development
- Part III: Gonadal Maldevelopment
- 5: Y Chromosome Aberrations
- 6: X Chromosome Aberrations
- 7: Autosomal Disorders
- 8: Absence of gonads
- Part IV: Sexual Maldevelopment
- 9: Genetic Disorders of the Anti-Mullerian Hormone (AMH) and Its Receptor
- 10: Genetic Disorders Expressed by Gonadotrophin Insufficiency
- 11: Genetic Disorders of Gonadotrophin Action
- 12: Genetic Disorders Expressed as Gonadotrophin Excess
- 13: Genetic Disorders of Steriodogenesis
- 14: Genetic Disorders of Sex Hormone Sensitivity
- 15: Syndromes with Sexual maldevelopment
- 16: Non-syndromal Abnormalities of Sexual Development in Males and Females
- 17: Systemic Disorders of Sexual Development with Gonadal Dysfunction
- 18: Autosomal Aneusomy and Sexual Maldevelopment
- Part V: Genetic Forms of Gamete Failure
- 19: Genetic Disorders of Gamete Delivery
- 20: Mouse Models of Infertility