Genetic Disorders of Human Sexual Development

by Pinsky, Leonard; Erickson, Robert P.; Schimke, R. Neil

• ISBN13: 9780195109078
• ISBN10: 0195109074
• Format: Hardcover
• Copyright: 1999-06-17
• Publisher: Oxford University Press

Summary

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.

Author Biography

Leonard Pinsky, M.D., is Chairman of the Department of Human Genetics and Professor in the Departments of Human Genetics, Medicine, and Pediatrics at McGill University. He also serves as Director of the Division of Genetics at Sir Mortimer B. Davis-Jewish General Hospital and Co-Director of the Androgen Receptor Laboratory at the Lady Davis Institute for Medical Research in Montreal.

Table of Contents

Normal Gonadal and Sexual Development

The Embryology of Normal Gonadal Development

Sex Chromosome and Autosome Contributions to Normal Gonadal Development

Introductory Biochemistry and Endocrinology of Sexual Development

Clinical Approach

The Clinical Approach to Genetic Abnormalties of Gonadal and Sexual Development

Gonadal Maldevelopment

Y Chromosome Aberrations

X Chromosome Aberrations

Autosomal Disorders

Absence of Gonads

Sexual Maldevelopment

Genetic Disorders of the Anti-Mullerian Hormone NT(AMH) and Its Receptor

Genetic Disorders Expressed by Gonadotrophin Insufficiency

Genetic Disorders of Gonadotrophin Action

Genetic Disorders Expressed as Gonadotrophin Excess

Genetic Disorders of Steriodogenesis

Genetic Disorders of Sex Hormone Sensitivity

Syndromes with Sexual Maldevelopment

Non-syndromal Abnormalities of Sexual Development in Males and Females

Systemic Disorders of Sexual Development with Gonadal Dysfunction

Autosomal Aneusomy and Sexual Maldevelopment

Genetic Forms of Gamete Failure

Genetic Disorders of Gamete Delivery

Mouse Models of Infertility

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