Genetic Disorders of Human Sexual Development / Edition 1

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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 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.

"...a uniquely valuable reference offering fully-referenced information about the genetic aspects of human sexual maldevelopment...presents alternatives, highlights specula- tion, raises questions & attempts to answer them, & more."

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Editorial Reviews

New England Journal of Medicine
...well written, up to date, thorough, and logically organized....[A] valuable reference that should interest every pediatrician, endocrinologist, urologist, andrologist, gynecologist, and geneticist who deals with disorders of the reproductive system.
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Product Details

  • ISBN-13: 9780195109078
  • Publisher: Oxford University Press, USA
  • Publication date: 1/28/1999
  • Series: Oxford Monographs on Medical Genetics Series , #38
  • Edition description: New Edition
  • Edition number: 1
  • Pages: 432
  • Product dimensions: 6.90 (w) x 10.20 (h) x 1.30 (d)

Meet the Author

McGill University

University of Arizona Health Science Center

University of Kansas Medical Center

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Table of Contents

I Normal Gonadal and Sexual Development
1 The Embryology of Normal Gonadal and Genital Development 3
2 Sex Chromosome and Autosome Contributions to Normal Gonadal Development 11
3 Introductory Biochemistry and Endocrinology of Sexual Development 39
II Clinical Approach
4 The Clinical Approach to Genetic Abnormalities of Gonadal and Sexual Development 51
III Gonadal Maldevelopment
5 Y Chromosome Aberrations 61
6 X Chromosome Aberrations 73
7 Autosomal Disorders 104
8 Absence of the Gonads 124
IV Sexual Maldevelopment
9 Genetic Disorders of the Anti-Mullerian Hormone AMH and its Receptor 131
10 Genetic Disorders Expressed by Gonadotropin Insufficiency 136
11 Genetic Disorders of Gonadotropin Action 154
12 Genetic Disorders Expressed as Gonadotropin Excess 180
13 Genetic Disorders of Steroidogenesis 192
14 Genetic Disorders of Sex Hormone Sensitivity 241
15 Syndromes with Sexual Maldevelopment 258
16 Non-Syndromal Abnormalities of Sexual Development in Males and Females 321
17 Systemic Disorders of Sexual Development with Gonadal Dysfunction 343
18 Autosomal Aneusomy and Sexual Maldevelopment 355
V Genetic Forms of Gamete Failure
19 Genetic Disorders of Gamete Delivery 377
20 Autosomal Genomic and Chromosomal Disorders with Meiotic Abnormalities Causing Impaired Gametogenesis 383
21 Mouse Models of Infertility 386
App Selected Features of Various Genetic and Other Disorders of Human Sexual Development and the Chapters in Which They Are Discussed 393
Index 399
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