Genetic Disorders of Human Sexual Development

Hardcover | June 15, 1999

byLeonard Pinsky, Robert P. Erickson, R. Neil Schimke

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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 commonto 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 describesgenetic 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 welcomedby 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.

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From the Publisher

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 be...

Leonard Pinsky is at McGill University. Robert P. Erickson is at University of Arizona.
Format:HardcoverPublished:June 15, 1999Publisher:Oxford University PressLanguage:English

The following ISBNs are associated with this title:

ISBN - 10:0195109074

ISBN - 13:9780195109078

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Table of Contents

Part I: NORMAL GONADAL AND SEXUAL DEVELOPMENT1. The Embryology of Normal Gonadal Development2. Sex Chromosome and Autosome Contributions to Normal Gonadal Development3. Introductory Biochemistry and Endocrinology of Sexual DevelopmentPart II: CLINICAL APPROACH4. The Clinical Approach to Genetic Abnormalties of Gonadal and Sexual DevelopmentPart III: GONADAL MALDEVELOPMENT5. Y Chromosome Aberrations6. X Chromosome Aberrations7. Autosomal Disorders8. Absence of GonadsPart IV: SEXUAL MALDEVELOPMENT9. Genetic Disorders of the Anti-Mullerian Hormone NT(AMH) and Its Receptor10. Genetic Disorders Expressed by Gonadotrophin Insufficiency11. Genetic Disorders of Gonadotrophin Action12. Genetic Disorders Expressed as Gonadotrophin Excess13. Genetic Disorders of Steriodogenesis14. Genetic Disorders of Sex Hormone Sensitivity15. Syndromes with Sexual Maldevelopment16. Non-syndromal Abnormalities of Sexual Development in Males and Females17. Systemic Disorders of Sexual Development with Gonadal Dysfunction18. Autosomal Aneusomy and Sexual MaldevelopmentPart V: GENETIC FORMS OF GAMETE FAILURE19. Genetic Disorders of Gamete Delivery20. Mouse Models of Infertility

Editorial Reviews

"...a welcome addition to the clinicla genetic pantheon. It fits nicely in the excellent Oxford monograph series (N=38). The authors cover most key topics in this complex field...The books strengths naturally reflect those of its authors- genetic control of sex determination; disordersaffecting gonadotropins, steroid biosynthetic pathways and sex hormone receptors; and multiple malformation syndromes. Dysmorphologists should purchase this volume as a resource for 'their' topic alone. Other clinical geneticists and endocrinologists will benefit as well from clinical insight andgenetic consideration of rare endocrine disorders."--American Journal of Medical Genetics 2001