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The key clinical, laboratory, and therapeutic features of the common forms of congenital adrenal hyperplasia (CAH) are discussed in this chapter. Manifestations of a deficiency of each enzyme in the pathway, including the clinical presentation, laboratory findings, and therapeutic measures, are shown in Table 533-1. Because each steroidogenic enzyme has multiple activities and many extra adrenal tissues contain enzymes that have similar activities, the complete elimination of a specific adrenal enzyme may not result in the complete elimination of its steroidal products from the circulation.

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Table 533-1. Clinical and Laboratory Findings and Therapeutic Measures in the Congenital Adrenal Hyperplasias

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