Congenital Adrenal Hyperplasia

  • Christine M. Trapp
  • Lenore S. Levine
  • Sharon E. Oberfield


Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders in which there is a deficiency of one of the enzymes necessary for cortisol synthesis. An abnormality in each of the enzymatic activities required for cortisol synthesis has been described. As a result of the disordered enzymatic step, there is decreased cortisol synthesis, increased ACTH via a negative feedback system, overproduction of the hormones prior to the enzymatic step or not requiring the deficient enzyme, and deficiency of the hormones distal to the disordered enzymatic step. Since several of the enzymatic steps are required for sex hormone synthesis by the gonad, a disordered enzymatic step in the gonad resulting in gonadal steroid hormone deficiency may also be present. This chapter presents an overview of all of the enzymatic deficiencies resulting in CAH with the most extensive review of 21-hydroxylase deficiency which is the most common, first described, and most intensively studied of the enzymatic disorders.


Congenital adrenal hyperplasia 21-Hydroxylase deficiency Ambiguous genitalia Nonclassic congenital adrenal hyperplasia Newborn screening Androgen excess Steroidogenesis Maternal treatment 



We acknowledge Dr. Selma Witchel for her thoughtful review and discussion of this chapter. We also thank Hailey Roumimper, ScB for her editorial assistance with manuscript preparation.


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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Christine M. Trapp
    • 1
    • 2
  • Lenore S. Levine
    • 3
  • Sharon E. Oberfield
    • 4
  1. 1.PediatricsUniversity of Connecticut School of MedicineHartfordUSA
  2. 2.Division of Pediatric Diabetes and EndocrinologyHartfordUSA
  3. 3.PediatricsCollege of Physicians & Surgeons of Columbia UniversityNew YorkUSA
  4. 4.Division of Pediatric Endocrinology, Diabetes and MetabolismMorgan Stanley Children’s Hospital, NY Presbyterian/Columbia UniversityNew YorkUSA

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