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
Auflage
Sprache
Verlagsort
Verlagsgruppe
Elsevier Science & Techn.
Illustrationen
160 illustrations (110 in full color)
Dateigröße
ISBN-13
978-0-12-821425-1 (9780128214251)
Schweitzer Klassifikation
1. Introduction2. Adrenal Development3A. Congenital Adrenal Hyperplasia Owing to 21 Hydroxylase Deficiency3B. Growth Hormone Therapy to Improve Adult Height in Patients with Congenital Adrenal Hyperplasia3C. Bone Mineral Density and Skeletal Outcomes in Congenital Adrenal Hyperplasia3D. Steroid 11B-Hydroxylase Deficiency and Related Disorders3E. 3B-Hydroxysteroid Dehydrogenase Deficiency3F. Genetic Deficiencies for Cytochrome P450 (CYP17A1): Combined 17 Hydroxylase/17,20 Lyase Deficiency and Isolated 17,20 Lyase Deficiency4. Disorders in the Initial Steps in Steroidogenesis5. P450 Oxidoreductase Deficiency (PORD)6. Aromatase Deficiency7. 46XY DSD due to 17bHydroxysteroid Dehydrogenase 3 Deficiency8A. Steroid 5a-Reductase 2 Deficiency8B. Marsupial Pathway of Steroid 5a Reductase Deficiency in Humans9. Androgen Insensitivity Syndrome10. Persistent Müllerian Duct Syndrome11A. Apparent Mineralocorticoid Excess (AME)11B. History, Biology, Pathophysiology of AME11C. Primary Aldosteronism: Where are we now?12. Nuclear Receptor Co-regulators13. Genetics of Adrenal Tumors14. Genetic Factors in Cushing Disease Pathogenesis15. The Genetics of Ovotesticular Disorders of Sexual Development16A. Impact of Genetic Steroid Disorders on Human Fertility16B. Ambiguous Genitalia in Newborns16C. Prenatal Diagnosis of Congenital Adrenal Hyperplasia16D. Preimplantation Diagnosis of Congenital Adrenal Hyperplasia17. Psychoendocrinology of Congenital Adrenal Hyperplasia18. Treatment and Outcome of Congenital Adrenal Hyperplasia: Current Reconstructive Surgery19. Debates and Controversies in Genetic Steroid Disorders20. Geographical Endocrinology of Genetic Steroid Disorders21. Animal Models of Adrenal Steroid Disorders22A. Case Reports: Extreme Presentations from Inactivation and Hyperactivation of the LH receptor (LHCGR) action22B. Case Reports: Unsolved Mysteries of Steroid Disorders
