A case of late-onset congenital adrenal hyperplasia due to partial 3 beta-hydroxysteroid dehydrogenase deficiency.
Late-onset congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency has been reported with increasing frequency, but only a few adult women have been found to have this disorder in Japan. We report a 26-year-old Japanese hirsute woman with partial 3 beta-hydroxysteroid dehydrogenase deficiency. The diagnosis was based on significantly increased ratios of 17-hydroxypregnenolone to 17-hydroxyprogesterone and of dehydroepiandrosterone to androstenedione after administration of ACTH. Hirsutism improved with the administration of dexamethasone (0.5 mg) every evening. Since routine assay of delta 5-steroid metabolites has become available, the incidence of this disorder will increase. Diagnostic effort should be attempted since the disorder is treatable with low-dose dexamethasone.
Department of Endocrinology, Kobe City General Hospital, Japan.
N
N
Hattori
T
T
Ishihara
K
K
Moridera
M
M
Hino
K
K
Ikekubo
H
H
Kurahachi
D015096:3-Hydroxysteroid Dehydrogenases / Q000172:deficiency*; D000312:Adrenal Hyperplasia, Congenital / Q000188:drug therapy / Q000201:enzymology*; D000324:Adrenocorticotropic Hormone / Q000097:blood; D000328:Adult; D000728:Androgens / Q000097:blood; D003687:Dehydroepiandrosterone / Q000097:blood; D003907:Dexamethasone / Q000627:therapeutic use; D005260:Female; D005938:Glucocorticoids / Q000097:blood; D006628:Hirsutism / Q000188:drug therapy / Q000201:enzymology; D006801:Humans
D000728:Androgens; D005938:Glucocorticoids; D003687:Dehydroepiandrosterone; D003907:Dexamethasone; D000324:Adrenocorticotropic Hormone; D015096:3-Hydroxysteroid Dehydrogenases