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Nonclassical 3 beta-hydroxysteroid dehydrogenase deficiency in young girls with hirsutism and premature pubarche
1Department of Pediatrics, Hiroshima Red Cross Hospital, Japan.
Endocrinologia Japonica
|October 1, 1990
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.