Increased urinary 6-sulfatoxymelatonin excretion in women with non-classical steroid 21-hydroxylase deficiency

To determine melatonin production in hyperandrogenic women. Seventeen women with late onset adrenal hyperplasia due to 21-hydroxylase deficiency (LOCAH) and 15 control women were studied in early follicular phase of the menstrual cycle. Fasting serum levels of luteinizing hormone (LH), follicle-stimulating hormone (FSH), estradiol (E(2)), testosterone, dihydroepiandrosterone sulfate (DHEA-S), 17-hydroxyprogesterone (17-OHP) as well as the peak 17-OHP response to ACTH (250 microg IV) and 24h urinary 6-sulfatoxymelatonin (aMT6s) were determined in all participants. All 17 hyperandrogenic women were carrying mutations of the CYP21 gene. Women with LOCAH had significantly higher serum testosterone, DHEA-S, 17-OHP and ACTH stimulated 17-OHP values compared with controls. Their aMT6s values (44.6+/-20.3 microg/24h) were significantly higher than the values in control women (31.5+/-20.3) (p