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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1. Introduction 2. Adrenal Development 3A. Congenital Adrenal Hyperplasia Owing to 21 Hydroxylase Deficiency 3B. Growth Hormone Therapy to Improve Adult Height in Patients with Congenital Adrenal Hyperplasia 3C. Bone Mineral Density and Skeletal Outcomes in Congenital Adrenal Hyperplasia 3D. Steroid 11B-Hydroxylase Deficiency and Related Disorders 3E. 3B-Hydroxysteroid Dehydrogenase Deficiency 3F. Genetic Deficiencies for Cytochrome P450 (CYP17A1): Combined 17 Hydroxylase/17,20 Lyase Deficiency and Isolated 17,20 Lyase Deficiency 4. Disorders in the Initial Steps in Steroidogenesis 5. P450 Oxidoreductase Deficiency (PORD) 6. Aromatase Deficiency 7. 46XY DSD due to 17bHydroxysteroid Dehydrogenase 3 Deficiency 8A. Steroid 5α-Reductase 2 Deficiency 8B. Marsupial Pathway of Steroid 5α Reductase Deficiency in Humans 9. Androgen Insensitivity Syndrome 10. Persistent Müllerian Duct Syndrome 11A. Apparent Mineralocorticoid Excess (AME) 11B. History, Biology, Pathophysiology of AME 11C. Primary Aldosteronism: Where are we now? 12. Nuclear Receptor Co-regulators 13. Genetics of Adrenal Tumors 14. Genetic Factors in Cushing Disease Pathogenesis 15. The Genetics of Ovotesticular Disorders of Sexual Development 16A. Impact of Genetic Steroid Disorders on Human Fertility 16B. Ambiguous Genitalia in Newborns 16C. Prenatal Diagnosis of Congenital Adrenal Hyperplasia 16D. Preimplantation Diagnosis of Congenital Adrenal Hyperplasia 17. Psychoendocrinology of Congenital Adrenal Hyperplasia 18. Treatment and Outcome of Congenital Adrenal Hyperplasia: Current Reconstructive Surgery 19. Debates and Controversies in Genetic Steroid Disorders 20. Geographical Endocrinology of Genetic Steroid Disorders 21. Animal Models of Adrenal Steroid Disorders 22A. Case Reports: Extreme Presentations from Inactivation and Hyperactivation of the LH receptor (LHCGR) action 22B. Case Reports: Unsolved Mysteries of Steroid Disorders
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