Genetic Disorders of Human Sexual Development / Edition 1

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Overview

Authoritative clinical reference on genetic sexual disorders, a field that has been transformed in many areas by molecular genetics.

"...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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