Genetic Steroid Disorders

1st Edition

Editors: Maria I. New Oksana Lekarev Alan Parsa Tony Yuen Bert O'Malley Gary Hammer
Hardcover ISBN: 9780124160064
eBook ISBN: 9780123914675
Imprint: Academic Press
Published Date: 24th September 2013
Page Count: 406
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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.

Key Features

  • 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


Adult and pediatric endocrinologists, academic and clinical researchers in endocrinology and clinical genetics, geneticists, genetic counselors, and psychoendocrinologists.

Table of Contents




Chapter 1. Introduction



Chapter 2. Adrenal Development



Adrenal Organogenesis

Molecular Mechanisms That Regulate Adrenal Development

Adrenal Diseases


Chapter 3A. Congenital Adrenal Hyperplasia Owing to 21-Hydroxylase Deficiency



Endocrine Function of the Adrenal Cortex

The Adrenal Cortex as Two Glands

Pathogenesis of 21-Hydroxylase Deficiency

Classical CAH

Non-Classical CAH

Diagnosis (Hormonal and Genetic)

Molecular Mechanisms Creating Cyp21a2 Genetic Defects

Clinical Features


Prenatal Diagnosis and Treatment


Chapter 3B. The History of Prenatal Diagnosis of Congenital Adrenal Hyperplasia



Hormonal Measurements in Amniotic Fluid

Molecular Genetics

Dexamethasone Treatment and Controversy

Non-Invasive Prenatal Diagnosis

Fetal Sex Determination

Future Directions



Chapter 3C. Growth Hormone Therapy to Improve Adult Height in Patients with Congenital Adrenal Hyperplasia



Adult Height in CAH

Factors Affecting Adult Height in CAH

Studies with Growth Hormone Treatment to Improve Adult Height in CAH



Chapter 3D. Steroid 11β-Hydroxylase Deficiency and Related Disorders




Biochemistry of Adrenal Steroid Biosynthesis

Genetics of Steroid 11β-Hydroxylase Isozymes

Steroid 11β-Hydroxylase Deficiency

Aldosterone Synthase (Corticosterone Methyloxidase) Deficiency

Glucocorticoid-Suppressible Hyper


No. of pages:
© Academic Press 2014
Academic Press
eBook ISBN:
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About the Editor

Maria I. New

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

Oksana Lekarev

Alan Parsa

Tony Yuen

Assistant Professor of Medicine, Endocrinology, Diabetes and Bone Disease, Department of Pediatrics, Mount Sinai Medical Center, New York, NY, USA

Affiliations and Expertise

Department of Pediatrics, Mount Sinai Medical Center, New York, NY, USA

Bert O'Malley

Gary Hammer


"Appropriate for both novice and experienced researchers, this collection demonstrates that the genetic basis has been located for each steroid disorder causing clinical and bioclinical abnormalities in patients. Ten of the 31 chapters describe the symptoms, cause, diagnosis, and treatment of the many disorders resulting from congenital adrenal hyperplasia…the definitive treatise belongs in every medical library.", February 2014
"Appropriate for both novice and experienced researchers, this collection demonstrates that the genetic basis has been located for each steroid disorder causing clinical and bioclinical abnormalities in patients…Edited by a professor of pediatric endocrinology at Mount Sinai Hospital, the definitive treatise belongs in every medical library."--Reference & Research Book News, December 2013