Genetic Steroid Disorders
eBook - ePub

Genetic Steroid Disorders

  1. 468 pages
  2. English
  3. ePUB (mobile friendly)
  4. Only available on web
eBook - ePub

Genetic Steroid Disorders

Book details
Table of contents
Citations

About This Book

Genetic Steroid Disorders, Second Edition targets adult and pediatric endocrinologists, clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists, urologists, and psychoendocrinologists. It is designed to assist these specialists in the diagnosis and treatment of steroid disorders. This revision includes a new chapter on "Gonadotropins, Obesity and Bone" and new research on non-invasive prenatal diagnosis with cell-free DNA. Chapters are thoroughly updated covering steroid disorders, the genetic bases for the disorder and case presentations, This definitive reference belongs in every medical library!

  • Presents a comprehensive, translational look at all aspects of genetic steroid disorders in one reference work
  • Provides a common language for endocrinologists, geneticists, molecular pathologists, and genetic counselors to discuss and diagnose genetic steroid disorders Saves clinicians and researchers time in quickly accessing the very latest details on genetic tests and diagnoses as opposed to searching through thousands of journal articles
  • Highlights significant discoveries with clinical relevance, presenting insight into which medications to use based on the genetic makeup of a patient
  • Teaches the best strategies and most effective use of genetic information in the patient counseling setting

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Yes, you can access Genetic Steroid Disorders by Maria I. New,Bert O'Malley,Gary D. Hammer,Oksana Lekarev,Alan Parsa,Tony T. Yuen,Mone Zaidi,Ahmed Khattab,Anne MacDonald in PDF and/or ePUB format, as well as other popular books in Biological Sciences & Genetics & Genomics. We have over one million books available in our catalogue for you to explore.

Information

Publisher
Academic Press
Year
2023
ISBN
9780128214251
Edition
2
Topic
Biological Sciences
Subtopic
Genetics & Genomics
Index
Biological Sciences

Table of contents

  1. Cover image
  2. Title page
  3. Table of Contents
  4. Copyright
  5. Dedication
  6. List of contributors
  7. Preface
  8. Chapter 1. Introduction
  9. Chapter 2. Adrenal development
  10. Chapter 3A. Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency
  11. Chapter 3B. Steroid 11β-hydroxylase deficiency and related disorders
  12. Chapter 3C. 3β-Hydroxysteroid dehydrogenase deficiency
  13. Chapter 3D. Genetic deficiencies of cytochrome P450c17 (CYP17A1) combined 17-hydroxylase/17,20-lyase deficiency and isolated 17,20-lyase deficiency
  14. Chapter 4A. The history of prenatal diagnosis of congenital adrenal hyperplasia
  15. Chapter 4B. Contemporary prenatal genetic diagnosis for congenital adrenal hyperplasia: preimplantation genetic testing and maternal cell-free DNA
  16. Chapter 5. The impact of genetic steroid disorders on human fertility
  17. Chapter 6. Atypical genitalia in the newborn
  18. Chapter 7. Growth hormone treatment in children with congenital adrenal hyperplasia
  19. Chapter 8. Bone mineral density and skeletal outcomes in congenital adrenal hyperplasia
  20. Chapter 9. Treatment and outcome of congenital adrenal hyperplasia: current reconstructive surgery
  21. Chapter 10. Psychoendocrinology of congenital adrenal hyperplasia
  22. Chapter 11. Disorders in the initial steps in steroidogenesis
  23. Chapter 12. P450 oxidoreductase deficiency
  24. Chapter 13. Aromatase in human physiology and pathology: implications of human aromatase deficiency
  25. Chapter 14A. The genetics of ovotesticular differences of sex development
  26. Chapter 14B. 46,XY differences of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency
  27. Chapter 14C. Spectrum of activation and inactivation of gene for the luteinizing hormone chorionic gonadotrophin receptor
  28. Chapter 15. Steroid 5Îą-reductase 2 deficiency
  29. Chapter 16. Androgen insensitivity syndrome
  30. Chapter 17. The Persistent MĂźllerian Duct Syndrome
  31. Chapter 18A. Clinical diagnosis and treatment of apparent mineralocorticoid excess
  32. Chapter 18B. The history, biology, and pathophysiology of apparent mineralocorticoid excess
  33. Chapter 19. Primary aldosteronism: where are we now?
  34. Chapter 20. Nuclear receptors and coactivators
  35. Chapter 21. Genetics of adrenal tumors
  36. Chapter 22. Genetic factors in Cushing disease pathogenesis
  37. Chapter 23. Debates and controversies in genetic steroid disorders
  38. Chapter 24. Geographical endocrinology of genetic steroid disorders
  39. Chapter 25A. Animal models of adrenal genetic disorders
  40. Chapter 25B. Steroidogenesis across species: aldo keto reductases in marsupials, fish and humans
  41. Index