DRAYER, NM

JOANNOU, GE

KRAAN, GPB

NAGEL, GT

VANDERMOLEN, JC

WOLTHERS, BG

The identification of 3 new 15beta-hydroxylated 21-deoxy-pregnanes in the urinary steroid profile of a 4-month-old girl with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is reported here. These steroids were identified by gas chromatography and gas chromatography-mass spectrometry as 3alpha,15beta,17-trihydroxy-5alpha-pregnan-20-one (5alphaII), 3alpha,15beta,17,20alpha-tetrahydroxy-5alpha-pregnane, and 3alpha,15beta,17,20alpha-tetra-hydroxy-5beta-pregnane (20alpha DH-11). Two other compounds in the urine, 3beta,15beta,17-trihydroxy-5alpha-pregnan-20-one and 3beta,15beta,17-trihydroxy-5beta-pregnan-20-one were also characterized. The identification of the former 3 steroids was obtained by comparing their methylene unit values and mass spectral data with the corresponding data of the standard steroids synthesized from 15beta,17-dihydroxy-4-pregnene-3,20-dione. Seven other synthesized and identified 15beta-hydroxylated steroids were 3alpha,15beta,17-trihydroxy-5beta-pregnan-20-one (II), 3alpha,15beta,17,20beta-tetrahydroxy-5beta-pregnane, 15beta,17-dihydroxy-5alpha-pregnane-3,20-dione, 15beta,17-dihydroxy-5beta-pregnane-3,20-dione, 15beta,17-dihydroxy-5beta-pregnane-3,20-dione, 3alpha,15beta-dihydroxy-5alpha-androstan-17-one (15betaOH-An), 3alpha,15beta-dihydroxy-5beta-androstan-17-one (15betaOH-Et) and 3alpha,15beta,17,20beta-tetrahydroxy-5alpha-pregnane. Of these the latter two have not been reported previously. This study supports 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 investigation viz., 5alphaII and 20alphaDH-II appear the most important 15beta-hydroxysteroid markers for this disease.</p

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

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