TY - CHAP M1 - Book, Section TI - Genetic Lesions in Steroidogenesis A1 - Miller, Walter L. A2 - Kline, Mark W. PY - 2018 T2 - Rudolph's Pediatrics, 23e AB - 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. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/29 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1182919880 ER -