Genetic Disorders of Human Sexual Development

Front Cover
Oxford University Press, 1999 - Medical - 410 pages
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.
 

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Contents

The Embryology of Normal Gonadal and Genital Development
3
Sex Chromosome and Autosome Contributions to Normal Gonadal
11
Introductory Biochemistry and Endocrinology of Sexual Development
39
The Clinical Approach to Genetic Abnormalities of Gonadal and Sexual
51
Y Chromosome Aberrations
61
Autosomal Disorders
104
Absence of the Gonads
124
Genetic Disorders of the AntiMüllerian Hormone AMH and
131
Genetic Disorders of Sex Hormone Sensitivity
241
Syndromes with Sexual Maldevelopment
258
NonSyndromal Abnormalities of Sexual Development in Males
321
association
327
Systemic Disorders of Sexual Development with Gonadal Dysfunction
343
Teratogenic Causes of Sexual Maldevelopment
353
Genetic Disorders of Gamete Delivery
377
Autosomal Genomic and Chromosomal Disorders with Meiotic
383

Genetic Disorders of Gonadotropin Action
154
Genetic Disorders Expressed as Gonadotropin Excess
180
Primary hypothyroidism 185 e Neurofibromatosis type 1 NF1
186
Genetic Disorders of Steroidogenesis
192
Selected Features of Various Genetic and Other Disorders
393
Index
399
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About the author (1999)

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.

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