Genetic Steroid Disorders, 1st Edition

  • Published By:
  • ISBN-10: 0123914671
  • ISBN-13: 9780123914675
  • DDC: 616.4
  • Grade Level Range: College Freshman - College Senior
  • 406 Pages | eBook
  • Original Copyright 2013 | Published/Released June 2014
  • This publication's content originally published in print form: 2013

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This is a comprehensive book addressing steroid disorders from hormonal, genetic, psychological, and surgical perspectives. It is meant to educate adult and pediatric endocrinologists, clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists, urologists, and psychoendocrinologists. It will assist these specialists in the diagnosis and treatment of steroid disorders. The book is written for postgraduate and faculty-level physicians. The content consists of steroid disorders, genetic bases for the disorder and case presentations of each disorder. Provides a common language for professionals to discuss and diagnose genetic steroid disorders.

Table of Contents

Front Cover.
Half Title Page.
Title Page.
Copyright Page.
1: Introduction.
2: Adrenal Development.
3: Congenital Adrenal Hyperplasia Owing to 21-Hydroxylase Deficiency.
4: The History of Prenatal Diagnosis of Congenital Adrenal Hyperplasia.
5: Growth Hormone Therapy to Improve Adult Height in Patients with Congenital Adrenal Hyperplasia.
6: Steroid 11β-Hydroxylase Deficiency and Related Disorders.
7: Ambiguous Genitalia in Newborns.
8: 3β-Hydroxysteroid Dehydrogenase Deficiency.
9: Genetic Deficiencies of Cytochrome P450c17 (CYP17A1): Combined 17-Hydroxylase/17,20-Lyase Deficiency and Isolated 17,20-Lyase Deficiency.
10: P450 Oxidoreductase Deficiency (PORD).
11: Disorders in the Initial Steps in Steroidogenesis.
12: Aromatase Deficiency and Aromatase Excess.
13: 46,XY DSD due to 17β-Hydroxysteroid Dehydrogenase 3 Deficiency.
14: Steroid 5α-Reductase 2 Deficiency.
15: Marsupial Pathway in Humans.
16: Androgen Insensitivity Syndrome.
17: Apparent Mineralocorticoid Excess.
18: The History, Biology, and Pathophysiology of Apparent Mineralocorticoid Excess.
19: Glucocorticoid-Remediable Aldosteronism.
20: The Genetics of Ovotesticular Disorders of Sex Development.
21: The Persistent Müllerian Duct Syndrome.
22: Treatment and Outcome of Congenital Adrenal Hyperplasia: Current Reconstructive Surgery.
23: Psychoendocrinology of Congenital Adrenal Hyperplasia.
24: Nuclear Receptor Co-regulators.
25: Genetics of Adrenal Tumors.
26: Animal Models of Adrenal Genetic Disorders.
27: The Impact of Genetic Steroid Disorders on Human Fertility.
28: Preimplantation Diagnosis and Other Modern Methods for Prenatal Diagnosis.
29: Geographical Endocrinology of Genetic Steroid Disorders.
30: Debates and Controversies in Genetic Steroid Disorders.
31: Genetic Factors in Cushing Disease Pathogenesis.
32: Case Reports of Unsolved Mysteries of Steroid Disorders: 46,XY DSD with One Clue.
Color Plates.