Late-onset 3 beta-ol-hydroxysteroid-dehydrogenase deficiency: prevalence, clinical presentation and endocrine pattern.
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.
D015096:3-Hydroxysteroid Dehydrogenases / Q000172:deficiency*; D000293:Adolescent; D000324:Adrenocorticotropic Hormone; D003687:Dehydroepiandrosterone / Q000031:analogs & derivatives / Q000097:blood; D019314:Dehydroepiandrosterone Sulfate; D005260:Female; D006628:Hirsutism / Q000201:enzymology; D006801:Humans; D008597:Menstrual Cycle; D011085:Polycystic Ovary Syndrome / Q000150:complications; D012738:Sex Hormone-Binding Globulin / Q000032:analysis; D013739:Testosterone / Q000097:blood
D012738:Sex Hormone-Binding Globulin; D013739:Testosterone; D003687:Dehydroepiandrosterone; D019314:Dehydroepiandrosterone Sulfate; D000324:Adrenocorticotropic Hormone; D015096:3-Hydroxysteroid Dehydrogenases