Serum levels of 5-androstene-3β, 7β-DIOL sulphate, 5α-androstane-3α,17β-DIOL sulphate and glucuronide, in late onset 21-hydroxylase deficiency

Abstract Serum sulphates of 5-androstene-3β,17β-diol (5-ADIOL-S), 5α-androstane-3α,17β-diol (3α-DIOL-S) and dehydroepiandrosterone (DHEA-S), as well as 5α-androstane-3α,17β-diol glucuronide (3α-DIOL-G) and unconjugated androstenedione (AD) and testosterone (T), sex hormone binding globulin (SHBG), free androgen index (FAI) and 17α-hydroxyprogester-ne (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/1 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 × T nmol/1 ÷ SHBG nmol/1) 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 3α-DIOL-S are increased, as is the glucuronide conjugate 3α-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 5α-dihydrotestosterone) in peripheral tissues, while 3α-DIOL-S and 3α-DIOL-G may both reflect peripheral androgen metabolism in patients with LOCAH.