A. M. Bongiovanni, M.D.
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It is now well established, through the work of various investigators, that the adrenogenital syndrome due to congenital adrenocortical hyperplasia in man is an "inborn error of metabolism." The prime defect lies in the biosynthetic pathway of cortisol, and it is recognized that this impediment may vary in degree. Three sites of deficient hydroxylation, presumably relating to 3 enzymes, along the course of several biochemical transactions in the production of cortisol, have been defined. The demonstration of an accumulation of excessive steroidal metabolites in urine (or blood) serves to "mark" the faulty step and to establish the diagnosis. The single
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Bongiovanni AM. The Adrenogenital Syndrome.. Ann Intern Med. 1963;58:722. doi: 10.7326/0003-4819-58-4-722_2
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Published: Ann Intern Med. 1963;58(4):722.
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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