Chapter 533. Genetic Lesions in Steroidogenesis

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.