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Review ArticleMedical ProgressFree Preview

Congenital Adrenal Hyperplasia

List of authors.
  • Phyllis W. Speiser, M.D.,
  • and Perrin C. White, M.D.

Congenital adrenal hyperplasia is a group of autosomal recessive disorders resulting from the deficiency of one of the enzymes required for cortisol synthesis in the adrenal cortex. The most frequent is steroid 21-hydroxylase deficiency, accounting for more than 90 percent of cases. This article discusses the molecular mechanisms, diagnosis, and management of this disease and highlights new developments, including genotype–phenotype correlations, gene-specific prenatal diagnosis, and prenatal therapy.

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Funding and Disclosures

Supported by a grant (R37 DK37867) from the National Institutes of Health.

Author Affiliations

From the Department of Pediatrics, Schneider Children's Hospital–North Shore–Long Island Jewish Health System, New Hyde Park, N.Y. (P.W.S.); New York University Medical Center, New York (P.W.S.); and the Department of Pediatrics, University of Texas Southwestern Medical Center at Dallas, Dallas (P.C.W.).

Address reprint requests to Dr. Speiser at Schneider Children's Hospital, 269-01 76th Ave., New Hyde Park, NY 11042, or at .

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