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The elevated adrenocorticotropic hormone stimulates both the accumulation of precursor steroids in the impeded pathways and excessive steroid synthesis in other adrenal biosynthetic pathways unaffected by the enzyme deficiency. Correct identification of the enzyme affected is achieved by the observation of clinical syndromes reflecting distinct hormonal patterns, and it is measured quantitatively as low levels of cortisol and other adrenal steroids, as well as increased levels of steroids proximal to the blocked step. Many of the corresponding genes for the described enzymes have been isolated and characterized, and specific mutations causing many cases of congenital adrenal hyperplasia have been identified. These advances have important implications for early prenatal diagnosis and prenatal treatment. <\/jats:p>","DOI":"10.1146\/annurev.med.49.1.311","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T11:45:04Z","timestamp":1027770304000},"page":"311-328","source":"Crossref","is-referenced-by-count":102,"title":["Diagnosis and Management of Congenital Adrenal Hyperplasia"],"prefix":"10.1146","volume":"49","author":[{"suffix":"MD","given":"Maria I.","family":"New","sequence":"first","affiliation":[{"name":"Pediatric Endocrinology, The New York Hospital\u2013Cornell Medical Center, New York, New York 10021;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"22","reference":[{"key":"b1","doi-asserted-by":"crossref","unstructured":"New MI, White PC. 1995. Genetic disorders of steroid metabolism. InGenetic and Molecular Biological Aspects of Endocrine Diseases, ed. R Thakker, KGMM Alberti, HG Burger, et al, pp. 525\u201354. 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