New identified 15β-hydroxylated 21-deoxy-pregnanes in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Abstract The identification of 3 new 15β-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 3α,15β, 17-trihydroxy-5α-pregnan-20-one (5αII), 3α,15β,17,20α-tetrahydroxy-5α-pregnane, and 3α,15β,17,20α-tetrahydroxy-5β-pregnane (20αDH-II). Two other compounds in the urine, 3β,15β,17-trihydroxy-5α-pregnan-20-one and 3β,15β,17-trihydroxy-5β-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 15β,17-dihydroxy-4-pregnene-3,20-dione. Seven other synthesized and identified 15β-hydroxylated steroids were 3α,15β,17-trihydroxy-5β-pregnane-20-one (II), 3α,15β,17,20β-tetrahydroxy-5β-pregnane, 15β,17-dihydroxy-5α-pregnane-3,20-dione, 15β,17-dihydroxy-5β-pregnane-3,20-dione, 3α,15β-dihydroxy-5α-androstan-17-one (15βOH-An), 3α,15β-dihydroxy-5β-androstan-17-one (15βOH-Et) and 3α,15β,17,20β-tetrahydroxy-5α-pregnane. Of these the latter two have not been reported previously. This study supports the findings that 15β-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., 5αII and 20αDH-II appear the most important 15β-hydroxysteroid markers for this disease.