Late-onset 3 beta-ol-hydroxysteroid-dehydrogenase deficiency: prevalence, clinical presentation and endocrine pattern

Acta Eur Fertil. 1985 Nov-Dec;16(6):427-30.

Abstract

3 patients with late-onset 3 beta-HSD deficiency are described. They presented increased DHEAs/delta 4 ratio either in basal conditions or after ACTH stimulation. All patients were hirsute but only one had increased serum values of delta 4 and total testosterone. However, all patients presented increased serum levels of free testosterone. Two patients had normal menstrual cycles and in one case a secondary PCO was found.

MeSH terms

  • 3-Hydroxysteroid Dehydrogenases / deficiency*
  • Adolescent
  • Adrenocorticotropic Hormone
  • Dehydroepiandrosterone / analogs & derivatives
  • Dehydroepiandrosterone / blood
  • Dehydroepiandrosterone Sulfate
  • Female
  • Hirsutism / enzymology
  • Humans
  • Menstrual Cycle
  • Polycystic Ovary Syndrome / complications
  • Sex Hormone-Binding Globulin / analysis
  • Testosterone / blood

Substances

  • Sex Hormone-Binding Globulin
  • Testosterone
  • Dehydroepiandrosterone
  • Dehydroepiandrosterone Sulfate
  • Adrenocorticotropic Hormone
  • 3-Hydroxysteroid Dehydrogenases