Nonclassical 3 beta-hydroxysteroid dehydrogenase deficiency in young girls with hirsutism and premature pubarche.
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.
Nishi
Y
Y
Department of Pediatrics, Hiroshima Red Cross Hospital, Japan.
D006907:17-alpha-Hydroxypregnenolone / Q000097:blood; D019326:17-alpha-Hydroxyprogesterone; D015096:3-Hydroxysteroid Dehydrogenases / Q000172:deficiency*; D000735:Androstenedione / Q000097:blood; D002648:Child; D003534:Cyproterone / Q000031:analogs & derivatives / Q000627:therapeutic use; D017373:Cyproterone Acetate; D003687:Dehydroepiandrosterone / Q000097:blood; D005260:Female; D006628:Hirsutism / Q000175:diagnosis / Q000188:drug therapy / Q000201:enzymology*; D006801:Humans; D006908:Hydroxyprogesterones / Q000097:blood; D010248:Paramethasone / Q000627:therapeutic use; D011629:Puberty, Precocious / Q000175:diagnosis / Q000188:drug therapy / Q000201:enzymology*
D006908:Hydroxyprogesterones; D006907:17-alpha-Hydroxypregnenolone; D000735:Androstenedione; D003687:Dehydroepiandrosterone; D017373:Cyproterone Acetate; D019326:17-alpha-Hydroxyprogesterone; D003534:Cyproterone; D015096:3-Hydroxysteroid Dehydrogenases; D010248:Paramethasone