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Genetic Disorders of Human Sexual Development : Oxford Monographs on Medical Genetics - Leonard Pinsky

Genetic Disorders of Human Sexual Development

Oxford Monographs on Medical Genetics

Hardcover Published: 1st September 1999
ISBN: 9780195109078
Number Of Pages: 432

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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.

"This book would make a valuable additiont o the library of any medical school or hospital where there is a clinical genetics or endocrine servoce. It will serve as a good reference source for a range of readers from medical students through clinical geneticists and endocrinologists, and it provides a good mix of practical clinical material and up-to-date biology." --Clinical and Investigative Medicine "The authors of Genetic Disorders of Human Social Development recognized the need for an update on the achievements in this area and have provided a very good synopsis. The three authors are a perfect team, since they are recognized experts in pediatrics and genetics....In general, this book is well written, up to date, thorough, and logically organized. It could become the definitive textbook on genetic disorders of human sexual development....a valuable reference that should interest every pediatrician, endocrinologist, urologist, andrologist, gynecologist, and geneticist who deals with disorders of the reproductive system." New England Journal of Medicine "The writing is succinct, clear, and well edited. This is a solid readable book that is rich in information. It should be on the shelves for all who care for those with these anomalies, and it should be accessible on library shelves to students of health care and to medical residents." -- Alasdair Hunter, Annals RCPSC, Vol 33, No. 7, Oct 2000 "...a welcome addition to the clinicla genetic pantheon. It fits nicely in the excellent Oxford monograph series (N=38). The authors cover most key topics in this complex field...The books strengths naturally reflect those of its authors- genetic control of sex determination; disorders affecting gonadotropins, steroid biosynthetic pathways and sex hormone receptors; and multiple malformation syndromes. Dysmorphologists should purchase this volume as a resource for 'their' topic alone. Other clinical geneticists and endocrinologists will benefit as well from clinical insight and genetic consideration of rare endocrine disorders."--American Journal of Medical Genetics 2001

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

ISBN: 9780195109078
ISBN-10: 0195109074
Series: Oxford Monographs on Medical Genetics
Audience: Professional
Format: Hardcover
Language: English
Number Of Pages: 432
Published: 1st September 1999
Country of Publication: US
Dimensions (cm): 26.31 x 18.49  x 3.12
Weight (kg): 1.24