Skip to Main Content

CONGENITAL ADRENAL HYPERPLASIA

As most steroidogenic enzymes are expressed in the adrenal, their disorders tend to be lumped under the term congenital adrenal hyperplasia (CAH), but most disorders of adrenal steroidogenesis are not characterized by adrenal hyperplasia, and, when present, adrenal enlargement is rarely a diagnostic point. One form of CAH, 21-hydroxylase deficiency (21OHD), accounts for > 90% of cases and is found in all ethnic groups; the other disorders are rare and tend to be found in isolated genetic clusters. Manifestations of a deficiency of each enzyme in the pathway, including the clinical presentation, laboratory findings, and therapeutic measures, are shown in Table 526-1. 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.

TABLE 526-1CLINICAL AND LABORATORY FINDINGS AND THERAPEUTIC MEASURES IN THE CONGENITAL ADRENAL HYPERPLASIAS

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.