Genetic Disorders of Human Sexual Development / Edition 1

Genetic Disorders of Human Sexual Development / Edition 1

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

ISBN-10: 0195109074

ISBN-13: 9780195109078

Pub. Date: 06/28/1999

Publisher: Oxford University Press, USA

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

Overview

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.

Product Details

ISBN-13:
9780195109078
Publisher:
Oxford University Press, USA
Publication date:
06/28/1999
Series:
Oxford Monographs on Medical Genetics Series, #38
Edition description:
New Edition
Pages:
432
Product dimensions:
6.90(w) x 10.20(h) x 1.30(d)

Table of Contents

Part I: 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 Approach to Genetic Abnormalties 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-Müllerian Hormone NT(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

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