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Genetic Steroid Disorders (2nd Ed.)

Langue : Anglais

Coordonnateurs : New Maria I., O'Malley Bert, Hammer Gary D., Lekarev Oksana, Parsa Alan, Yuen Tony T., Zaidi Mone, Khattab Ahmed, MacDonald Anne

Couverture de l’ouvrage Genetic Steroid Disorders
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!
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 5a-Reductase 2 Deficiency
8B. Marsupial Pathway of Steroid 5a 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

Dr. New received her Bachelors degree from Cornell University and her Doctor of Medicine degree from the University of Pennsylvania, where she was awarded the Distinguished Graduate Award.

She was Chairman of Pediatrics at Weill Medical College of Cornell University from 1980 to 2002 and Founding Director of its Children’s Clinical Research Center, where she also served as Chief of Pediatric Endocrinology from 1964 to 2002.

Dr. Maria New is Professor of Pediatrics, Professor of Genetics and Genomic Sciences, and Director of the Adrenal Steroid Disorders Program at Mount Sinai School of Medicine in New York City. She is also serving as Associate Dean for Clinical Research at the Florida International University Herbert Wertheim College of Medicine.

Former president of the Endocrine Society, Dr. New has edited or co-edited 12 medical textbooks, published more than 600 peer-reviewed papers and served as editor-in-chief of the Journal of Clinical Endocrinology and Metabolism. She has trained more than 100 young physician-scientists who have become chiefs of pediatric endocrinology and leaders in their field.

Her research, clinical work and teaching have taken her around the world. In 2005 and 2006, she led genetics research expeditions to Siberia in collaboration with the School of Medicine, St. Petersburg University, Russia.

Dr. New’s contributions have been recognized by her being selected as one of the few pediatricians in the National Academy of Sciences. She has received numerous honors including: the Robert H. Williams Distinguished Leadership Award; the Rhone-Poulenc Rorer Clinical Investigator Award from the American Endocrine Society; the 1996 Dale Medal, the highest award given by the British Endocrine Society; and the 2003 Fred Conrad Koch Award, the highest award given by the American Endocrine Society. In 2010, she received the Van Wyk Prize, the highest award given in pediatric endocrinology.

She has conducted pionee

  • 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