NEW IDENTIFIED 15-BETA-HYDROXYLATED 21-DEOXY-PREGNANES IN CONGENITAL ADRENAL-HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY

The identification of 3 new 15beta-hydroxylated 21-deoxy-pregnanes in the urinary steroid profile of a 4-month-old girl with congenital adre nal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is repo rted here. These steroids were identified by gas chromatography and ga s chromatography-mass spectrometry as 3alpha,15beta,17-trihydroxy-5alp ha-pregnan-20-one (5alphaII), ha,15beta,17,20alpha-tetrahydroxy-5alpha -pregnane, and pha,15beta,17,20alpha-tetra-hydroxy-5beta-pregnane (20a lpha DH-11). Two other compounds in the urine, 3beta,15beta,17-trihydr oxy-5alpha-pregnan-20-one and 3beta,15beta,17-trihydroxy-5beta-pregnan -20-one were also characterized. The identification of the former 3 st eroids was obtained by comparing their methylene unit values and mass spectral data with the corresponding data of the standard steroids syn thesized from 15beta,17-dihydroxy-4-pregnene-3,20-dione. Seven other s ynthesized and identified 15beta-hydroxylated steroids were 3alpha,15b eta,17-trihydroxy-5beta-pregnan-20-one (II), lpha,15beta,17,20beta-tet rahydroxy-5beta-pregnane, 15beta,17-dihydroxy-5alpha-pregnane-3,20-dio ne, 15beta,17-dihydroxy-5beta-pregnane-3,20-dione, 15beta,17-dihydroxy -5beta-pregnane-3,20-dione, 3alpha,15beta-dihydroxy-5alpha-androstan-1 7-one (15betaOH-An), 3alpha,15beta-dihydroxy-5beta-androstan-17-one (1 5betaOH-Et) and pha,15beta,17,20beta-tetrahydroxy-5alpha-pregnane. Of these the latter two have not been reported previously. This study sup ports the findings that 15beta-hydroxylated steroids are common in the neonate and could play an important role in the diagnosis of CAH due to 21OHD, where II and the newly identified steroids from this investi gation viz., 5alphaII and 20alphaDH-II appear the most important 15bet a-hydroxysteroid markers for this disease.