The endocrine pattern of late onset adrenal hyperplasia (21-hydroxylase deficiency).
We describe 5 adult women with severe hirsutism due to late onset 21-hydroxylase deficiency. Diagnosis was performed on the finding of high serum 17-hydroxyprogesterone (17OHP) levels with a marked hyperresponse to an ACTH test. The endocrine study showed in most patients a gonadotropin behavior similar to that observed in classical polycystic ovary (PCO) syndrome. Prolactin levels were slightly increased in basal conditions and presented an exaggerated response to TRH stimulation.
D019326:17-alpha-Hydroxyprogesterone; D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital; D000324:Adrenocorticotropic Hormone; D000328:Adult; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D012739:Gonadal Steroid Hormones / Q000097:blood; D006628:Hirsutism / Q000097:blood / Q000175:diagnosis / Q000201:enzymology*; D006801:Humans; D006908:Hydroxyprogesterones / Q000097:blood*; D007986:Luteinizing Hormone / Q000097:blood; D011388:Prolactin / Q000097:blood; D013255:Steroid 21-Hydroxylase / Q000097:blood; D013250:Steroid Hydroxylases / Q000172:deficiency*
D012739:Gonadal Steroid Hormones; D006908:Hydroxyprogesterones; D019326:17-alpha-Hydroxyprogesterone; D000324:Adrenocorticotropic Hormone; D011388:Prolactin; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D013250:Steroid Hydroxylases; D013255:Steroid 21-Hydroxylase