Congenital Adrenal Hyperplasia

Phyllis W. Speiser; Perrin C. White

Congenital Adrenal Hyperplasia

Review

In: Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000.

2026 Jan 21.

Authors

Phyllis W. Speiser¹, Perrin C. White²

Book Editors

Kenneth R Feingold¹, Robert A. Adler², S. Faisal Ahmed³, Bradley Anawalt⁴, Marc R Blackman⁵, George Chrousos⁶, Emiliano Corpas⁷, Wouter W de Herder⁸, Ketan Dhatariya⁹, Kathleen Dungan¹⁰, Emma Hamilton¹¹, Johannes Hofland¹², Suzanne Jan de Beur¹³, Sanjay Kalra¹⁴, Gregory Kaltsas¹⁵, Nitin Kapoor¹⁶, Matthew Kim¹⁷, Christian Koch¹⁸, Peter Kopp¹⁹, Márta Korbonits²⁰, Christopher S Kovacs²¹, Wendy Kuohung²², Blandine Laferrère²³, Miles Levy²⁴, Elizabeth A McGee²⁵, Robert McLachlan²⁶, Radhika Muzumdar²⁷, Jonathan Purnell²⁸, Rodolfo Rey²⁹, Rakesh Sahay³⁰, Amy S Shah³¹, Mark A Sperling³², Constantine A Stratakis³³, Dace L Trence³⁴, Don P Wilson³⁵

Affiliations

¹ Emeritus Professor, Department of Pediatrics, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY 11549.
² Professor, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390-9063.

Book Affiliations

¹ Professor of Medicine Emeritus, University of California, San Francisco, CA
² Chief of Endocrinology and Metabolism at the Richmond Veterans Affairs Medical Center and Professor of Internal Medicine at Virginia Commonwealth University.
³ Developmental Endocrinology Research Group, University of Glasgow, Glasgow, UK
⁴ Chief of Medicine at the University of Washington Medical Center and Professor and Vice Chair of the Department of Medicine, University of Washington
⁵ Sr. Physician Scientist, Washington DC VA Medical Center; Professor of Medicine & Rehabilitation Medicine, Georgetown University; Clinical Professor of Medicine, Biochemistry and Molecular Medicine, George Washington University; and Professor of Medicine (Part-time), Johns Hopkins University
⁶ Professor of Pediatrics and Endocrinology, Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, "Aghia Sophia" Children's Hospital, Athens, Greece
⁷ M.D. Ph.D in Gerontology. Honorary Professor of Medicine, Universidad de Alcalá, Madrid. Consultant in Endocrinology, Hospital HLA Guadalajara (Spain).
⁸ Professor of Endocrine Oncology, Erasmus MC and Erasmus MC Cancer Center, Rotterdam, the Netherlands
⁹ Consultant in Diabetes, Endocrinology and General Medicine, Norfolk and Norwich University Hospitals NHS Foundation Trust and University of East Anglia, Norwich, UK.
¹⁰ Professor of Medicine, Division of Endocrinology, Diabetes, and Metabolism, Ohio State University
¹¹ Consultant Endocrinologist at Fiona Stanley (FSH) and Fremantle Hospitals (FH) in Perth, Western Australia
¹² Consultant Endocrinologist, Erasmus MC and Erasmus MC Cancer Center, Rotterdam, the Netherlands
¹³ Professor of Endocrinology and Chief of the Division of Endocrinology and Metabolism at the University of Virginia School of Medicine.
¹⁴ Consultant Endocrinologist, Department of Endocrinology, Bharti Hospital, Karnal, India
¹⁵ Professor of General Medicine-Endocrinology, 1st Department of Propaedeutic Medicine, National and Kapodistrian University of Athens, Athens, Greece
¹⁶ Professor of Endocrinology, Department of Endocrinology, Diabetes and Metabolism, Christian Medical College & Hospital, Vellore, Tamil Nadu, India, Melbourne School of Population and Global Health, Faculty of Medicine, Dentistry and Health Science, The University of Melbourne, Australia.
¹⁷ Clinical Director of the Division of Endocrinology, Diabetes and Hypertension at Brigham and Women’s Hospital and an Assistant Professor of Medicine at Harvard Medical School. 18. Professor, Division of Endocrinology, Diabetes, Metabolism, Department of Medicine, The University of Tennessee Health Science Center, Memphis, TN, and University of Florida, Jacksonville, FL.
¹⁸ Professor, The University of Tennessee Health Science Center, Memphis, Tennessee
¹⁹ Professor of Medicine and Chief of the Division of Endocrinology, Diabetology and Metabolism, University of Lausanne, Switzerland
²⁰ Professor of Endocrinology and Metabolism, Centre Lead for Endocrinology and Deputy Institute Director, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, England
²¹ University Research Professor and Professor of Medicine (Endocrinology and Metabolism), Obstetrics & Gynecology, and BioMedical Sciences, at Memorial University of Newfoundland in St. John’s, Newfoundland, Canada.
²² Director of the Division of Reproductive Endocrinology at Boston Medical Center and an Associate Professor of Obstetrics and Gynecology at the Boston University School of Medicine
²³ Professor of Medicine, New York Nutrition Obesity Research Center, Division of Endocrinology, Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA.
²⁴ Consultant endocrinologist at University Hospitals of Leicester and Honorary Associate Professor at Leicester University
²⁵ Professor of Obstetrics and Gynecology at the University of Vermont and Director of the Division of Reproductive Endocrinology and Infertility. Burlington, Vermont
²⁶ Director of Clinical Research, Hudson Institute of Medical Research; Consultant Endocrinologist, Monash Medical Centre, Melbourne, Australia
²⁷ Allan L. Drash Endowed Chair, Chief, Division of Endocrinology and Diabetes, UPMC Children’s Hospital of Pittsburgh, Professor of Pediatrics and Cell Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA
²⁸ Professor of Medicine, Knight Cardiovascular Institute and the Division of Endocrinology, and Associate Director, Bob and Charlee Moore Institute for Nutrition and Wellness, Oregon Health and Science University, Portland, OR
²⁹ Centro de Investigaciones Endocrinológicas “Dr. César Bergadá” (CEDIE), CONICET-FEI-División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Gallo 1330, C1425EFD Buenos Aires; and Departamento de Histología, Biología Celular, Embriología y Genética, Facultad de Medicina, Universidad de Buenos Aires, C1121ABG Buenos Aires, Argentina
³⁰ Professor and Head of Department of Endocrinology, Osmania Medical College and Osmania General Hospital, Hyderabad, India.
³¹ Professor of Pediatrics, The University of Cincinnati, Department of Pediatrics and Cincinnati Children’s Hospital Medical Center, Division of Endocrinology, Cincinnati, OH, USA
³² Professorial Lecturer, Division of Pediatric Endocrinology and Diabetes, Icahn School of Medicine at Mount Sinai, New York, NY. Emeritus Professor and Chair, Department of Pediatrics, University of Pittsburgh.
³³ CSO, ELPEN, Inc. & Director, Research Institute, Athens, Greece & Senior Investigator, Human Genetics & Precision Medicine, FORTH (ITE), Heraklion, Greece. Emeritus Scientific Director & Senior Investigator, NICHD, NIH, Bethesda, MD, USA
³⁴ Professor of Medicine, Emeritus, University of Washington, Seattle, WA
³⁵ Endowed Chair, Cardiovascular Health and Risk Prevention, Pediatric Endocrinology and Diabetes, Cook Children's Medical Center, Fort Worth, TX

PMID: 25905188
Bookshelf ID: NBK278953

Excerpt

Disorders of steroidogenesis resulting in deficiencies of cortisol and/or aldosterone are collectively referred to as Congenital Adrenal Hyperplasia (CAH). These autosomal recessive enzymatic defects are typified by pathogenic variants in CYP21A2 encoding 21-hydroxylase. Deficiency in this important enzyme leads to deficiency of cortisol synthesis and accumulation of precursors, such as 17-hydroxyprogesterone, which are then shunted into the androgen synthetic pathway. Consequently, affected female fetuses undergo virilization of the external genitalia in early gestation. In classic salt wasting CAH patients, the parallel pathway to aldosterone is also impaired. Newborn screening has been instrumental in earlier diagnosis, permitting prompt glucocorticoid and mineralocorticoid treatment. Inadequate or excessive steroid replacement may disrupt normal growth and pubertal progress in children and impair reproductive function and cardiometabolic health in adults. Owing to combined adrenal hormone deficiencies, CAH patients are at increased the risk for adrenal crises during stressful periods. Here we discuss the characteristics of several enzyme defects and describe current and new treatment strategies. For complete coverage of all related areas of Endocrinology, please visit our on-line FREE web-text, WWW.ENDOTEXT.ORG.

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