Unusual type of congenital adrenal hyperplasia probably due to deficiency of 3-beta-hydroxysteroid dehydrogenase. Case report of a surviving girl and steroid studies.
D015068:17-Ketosteroids / Q000652:urine*; D000312:Adrenal Hyperplasia, Congenital; D000308:Adrenocortical Hyperfunction / Q000201:enzymology*; D000324:Adrenocorticotropic Hormone; D002648:Child; D003687:Dehydroepiandrosterone / Q000652:urine*; D005260:Female; D006801:Humans; D006854:Hydrocortisone / Q000627:therapeutic use*; D006913:Hydroxysteroid Dehydrogenases / Q000096:biosynthesis*; D008661:Metabolism, Inborn Errors; D010912:Pituitary-Adrenal Function Tests; D011278:Pregnanes / Q000096:biosynthesis*; D011279:Pregnanetriol / Q000652:urine*; D013256:Steroids / Q000096:biosynthesis*
D015068:17-Ketosteroids; D011278:Pregnanes; D013256:Steroids; D011279:Pregnanetriol; D003687:Dehydroepiandrosterone; D000324:Adrenocorticotropic Hormone; D006913:Hydroxysteroid Dehydrogenases; D006854:Hydrocortisone