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  • Title: Nonclassical 3 beta-hydroxysteroid dehydrogenase deficiency in young girls with hirsutism and premature pubarche.
    Author: Nishi Y.
    Journal: Endocrinol Jpn; 1990 Oct; 37(5):763-7. PubMed ID: 2150813.
    Abstract:
    Two young girls with hirsutism and premature pubarche showed nonclassical 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency. Post-ACTH increased serum delta 5-17-hydroxypregnenolone and increased ratio of delta 5-17-hydroxypregnenolone/17-hydroxyprogesterone are the most sensitive indicators of nonclassical 3 beta-HSD deficiency. Nonclassical 3 beta-HSD deficiency may not be uncommon, but most cases may have gone unrecognized. Routine assay of delta 5-17-hydroxypregnenolone should be made generally available.
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