Article
Molecular basis of congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency.
Molecular endocrinology (Baltimore, Md.) - 1 May 1993
Simard J, Rhéaume E, Sanchez R, Laflamme N, de Launoit Y, Luu-The V, van Seters A P, Gordon R D, Bettendorf M, Heinrich U
Abstract excerpt
Congenital adrenal hyperplasia is the most frequent cause of adrenal insufficiency and ambiguous genitalia in newborn children. In contrast to congenital adrenal hyperplasia due to 21-hydroxylase and 11 beta-hydroxylase deficiencies, which impair steroid formation in the adrenal cortex, exclusively, classical 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency affects steroid biosynthesis in the gonads as...
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