Acknowledgment
Significant sections of the work on which the data are reported herein were supported by USPHS Grant HD00072 and Children's Clinical Research Center Grant RR 06020.
SEARCH STRATEGY AND SELECTION CRITERIA
Data for this review were identified by searches of MEDLINE, Knowledge Finder, and references from relevant articles;
Numerous articles were identified through searches of the extensive files of the authors. Search terms were "congenital adrenal hyperplasia", "21-hydroxylase deficiency", "CYP21".
Congenital adrenal hyperplasia (CAH) is a family of inherited disorders of adrenal steroidogenesis owing to a deficiency in the 21-hydroxylase enzyme. CAH is considered to exist in three forms - salt wasting, simple virilizing, and nonclassical. Nonclassical 21-hydroxylase deficiency is one of the most common autosomal recessive diseases in the world. This paper will first review adrenal steroidogenesis and the pathophysiology of 21-hydroxylase deficiency. The three forms of CAH will then be discussed in terms of their clinical presentation, diagnosis and treatment, as well as the genetic basis of these disorders. Prenatal diagnosis and treatment will also be reviewed.