A case of late-onset congenital adrenal hyperplasia due to partial 3 beta-hydroxysteroid dehydrogenase deficiency

Endocr J. 1993 Feb;40(1):107-9. doi: 10.1507/endocrj.40.107.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • 3-Hydroxysteroid Dehydrogenases / deficiency*
  • Adrenal Hyperplasia, Congenital / drug therapy
  • Adrenal Hyperplasia, Congenital / enzymology*
  • Adrenocorticotropic Hormone / blood
  • Adult
  • Androgens / blood
  • Dehydroepiandrosterone / blood
  • Dexamethasone / therapeutic use
  • Female
  • Glucocorticoids / blood
  • Hirsutism / drug therapy
  • Hirsutism / enzymology
  • Humans

Substances

  • Androgens
  • Glucocorticoids
  • Dehydroepiandrosterone
  • Dexamethasone
  • Adrenocorticotropic Hormone
  • 3-Hydroxysteroid Dehydrogenases