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November 1965

Adrenogenital Syndrome: Association with 3-β-Hydroxysteroid Dehydrogenase Deficiency

Author Affiliations

From the Department of Pediatrics, Southern California Permanente Medical Group, Panorama City, and University of Southern California School of Medicine, Los Angeles. Dr. Kogut is now at the Childrens Hospital of Los Angeles.

Am J Dis Child. 1965;110(5):562-565. doi:10.1001/archpedi.1965.02090030586014

CONGENITAL adrenal hyperplasia is characterized by virilism which may be associated with "salt-losing" or other features.1 Deficiency of either 21-hydroxylation or 11-hydroxylation in the adrenal cortex in the biosynthesis of cortisol usually is present in this disorder. Recently, patients exhibiting another enzymatic defect, 3-β-hydroxysteroid dehydrogenase deficiency have been described.2-5 This defect has been associated with profound adrenocortical insufficiency and salt loss, and most patients have died despite apparently adequate therapy. The diagnosis may be difficult since excretion of pregnanetriol, a substance characteristically present in abnormally large amounts in the urine in the more typical forms of congenital adrenal hyperplasia, is not increased in this form of hyperplasia.4

It is the purpose of this communication to present a patient who represents another example of this disorder.

Report of a Case  Baby F was the product of a normal, full term spontaneous delivery, having a birth weight of 9

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