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Previous Volume 349:776-788 August 21, 2003 Number 8 Next

	Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

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Congenital adrenal hyperplasia is a group of autosomal recessive disorders resulting from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex. The most frequent is steroid 21-hydroxylase deficiency, accounting for more than 90 percent of cases. Since the last Medical Progress article on this topic was published in the Journal in 1987,¹ much has been learned about the genetics of the various clinical forms of 21-hydroxylase deficiency, and correlations between the genotype and the phenotype have been extensively studied. Gene-specific prenatal diagnosis is now feasible, and prenatal treatment has been more . . . [Full Text of this Article]

Biochemistry

Clinical Manifestations

Salt Wasting

Ambiguous Genitalia

Postnatal Virilization

Linear Growth

Reproductive Function

Presentation in Patients with Simple Virilizing 21-Hydroxylase Deficiency

Presentation in Patients with Nonclassic Disease

Presentation in Heterozygotes

Diagnosis

Genetics

Mutations

Correlations between Phenotype and Genotype

Treatment

Glucocorticoids

Mineralocorticoids

Management of Ambiguous Genitalia

Prenatal Diagnosis and Treatment

Novel Treatments

Source Information

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 pspeiser@LIJ.edu.

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