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
- Includes the very latest details on genetic tests and diagnoses
- Offers a strong understanding of the molecular basis for the diseases and therefore correct diagnosis and treatment of steroid disorders
- Presents 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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About the Author
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 pioneering research in the area of Congenital Adrenal Hyperplasia, a term used to describe a family of monogenic autosomal recessive disorders of steroidogenesis in which enzymatic defects result in impaired synthesis of cortisol by the adrenal cortex. In addition, Dr. New discovered a new form of hypertension, Apparent Mineralocorticoid Excess, which opened a new field of receptor biology. She was also the first to describe Dexamethasone-Suppressible Hyperaldosteronism, another form of low-renin hypertension. In 1999, she reported what may be the first example of a transcription factor defect in human beings.
Assistant Professor of Medicine, Endocrinology, Diabetes and Bone Disease, Department of Pediatrics, Mount Sinai Medical Center, New York, NY, USA
Table of Contents
1. Introduction / Maria I. New 2. Adrenal Development / Gary Hammer and John Achermann 3. Chapter 3 a- h / A. CAH owing to 21-hydroxylase deficiency / Maria I. New, Oksana Lekarev and Alan Parsa B. 11-Beta Hydroxylase Deficiency / Perrin White C. 3-Beta Hydroxysteroid Dehyrdrogenase Deficiency / Yves Morel D. 17-Hydroxylase Deficiency and 17-20 Lyase Deficiency / Richard Auchus E. P450 Oxidoreductase Deficiency / Christa Flueck F. StAR Protein Abnormalities / Walter Miller G. Aromatase Deficiency / Melvin Grumbach H. 17-Hydroxysteroid Dehyrdrogenase Deficiency / Berenice Mendonca 4. Chapter 4 a- b A. 5 α Reductase Deficiency / Jean Wilson B. Androgen Resistance / Charles Sultan 5. Chapter 5 a-b A. AME / Saroj Nimkam B. DSH / Robert Dluhy 6. Ovotesticular DSD / Eric Vilain 7. Chapter 7 a-b / A. Mixed Gonadal Dysgenesis and Turners Syndrome / Paul Saenger B. Persistent Oviduct Syndrome / Nathalie Josso 8. Surgical repair of Ambiguous Genitalia / Dix Poppas and Richard Rink 9. Psychoendocrinology / Heino Meyer-Bahlburg 10. Nuclear Steroid Hormone Receptors / Bert O'Malley 11. Adrenal Tumors- Genetics / Gary Hammer 12. Pre-implantation Genetics / Joe Leigh Simpson Special Features A. Animal models of adrenal genetic disorders / Felix Beuschlein B. Reproductive Endocrinology of Genetic Steroid Disorders / Zev Rosenwaks C. Geographical Endocrinology of Genetic Steroid Disorders / Ursula Kuhnle D. Treatment of Cah patients w/ GH to improve height / Karen Su E. Debates and Controversies in Genetic Steroid Disorders / Phyllis Speiser F. Case Reports of Unsolved Mysteries of Steroid Disorders / Svetlana Ten and Amrit Banghoo G. Marsupial Pathway in Humans / Anna Lauber and Christa Flueck I. Pituitary Genetic Factors in Cushings / Shlomo Melmed and Alan Parsa