Serum levels of 5-androstene-3 beta,17 beta-diol sulphate, 5 alpha-androstane-3 alpha, 17beta-diol sulphate and glucuronide, in late onset 21-hydroxylase deficiency.
Serum sulphates of 5-androstene-3 beta,17 beta-diol (5-ADIOL-S), 5 alpha-androstane-3 alpha,17 beta-diol (3 alpha-DIOL-S) and dehydroepiandrosterone (DHEA-S), as well as 5 alpha-androstane-3 alpha,17 beta-diol glucuronide (3 alpha-DIOL-G) and unconjugated androstenedione (AD) and testosterone (T), sex hormone binding globulin (SHBG), free androgen index (FAI) and 17 alpha-hydroxyprogester-one (17OHP) were measured by specific radioimmunoassays (RIA) in 14 women with late-onset 21-hydroxylase deficiency (LOCAH), and in normal women (n = 73). The diagnosis of LOCAH was made on the finding of a (17OHP) response level greater than 30 nmol/l following ACTH stimulation, and/or an elevation of urinary metabolites of 17OHP. Mean values for serum concentrations of all steroids measured and the free androgen index (100 X T nmol/l divided by SHBG nmol/l) were significantly elevated, and SHBG levels depressed in patients with LOCAH. These studies show that in LOCAH, in addition to the unconjugated steroids AD and T, the sulphoconjugated steroids DHEA-S, 5-ADIOL-S and 3 alpha-DIOL-S are increased, as is the glucuronide conjugate 3 alpha-DIOL-G and the index of bioavailable testosterone (FAI), and that mean SHBG levels are depressed. These data suggest that as well as AD, 5-ADIOL-S and DHEA-S may act as pro-hormones for more potent steroids (T and 5 alpha-dihydrotestosterone) in peripheral tissues, while 3 alpha-DIOL-S and 3 alpha-DIOL-G may both reflect peripheral androgen metabolism in patients with LOCAH.
Montalto
J
J
Department of Biochemistry, Royal Children's Hospital, Melbourne, Australia.
Funder
J W
JW
Yong
A B
AB
Whorwood
C B
CB
Connelly
J F
JF
D019326:17-alpha-Hydroxyprogesterone; D000312:Adrenal Hyperplasia, Congenital; D000324:Adrenocorticotropic Hormone; D000328:Adult; D015113:Androstane-3,17-diol / Q000097:blood*; D015114:Androstenediol / Q000097:blood*; D000735:Androstenedione / Q000097:blood; D003687:Dehydroepiandrosterone / Q000031:analogs & derivatives / Q000097:blood; D019314:Dehydroepiandrosterone Sulfate; D005260:Female; D005965:Glucuronates / Q000097:blood*; D006628:Hirsutism / Q000097:blood; D006801:Humans; D006908:Hydroxyprogesterones / Q000097:blood / Q000652:urine; D012738:Sex Hormone-Binding Globulin / Q000378:metabolism; D013431:Sulfates / Q000097:blood*; D013739:Testosterone / Q000097:blood
D005965:Glucuronates; D006908:Hydroxyprogesterones; D012738:Sex Hormone-Binding Globulin; D013431:Sulfates; D015113:Androstane-3,17-diol; D013739:Testosterone; D000735:Androstenedione; D003687:Dehydroepiandrosterone; D019314:Dehydroepiandrosterone Sulfate; D019326:17-alpha-Hydroxyprogesterone; D000324:Adrenocorticotropic Hormone; D015114:Androstenediol