Pregnanetriol is a metabolite of 17α-hydroxyprogesterone .1,2It is formed from 17α-hydroxyprogesterone by reduction of the C-20 ketone.2Urinary levels of pregnanetriol are elevated in patients with 21-hydroxylase deficiency and congenital adrenal hyperplasia.3,4 1.Kamrath, C., Hartmann, M.F., Boettcher, C., et al.Diagnosis of 21-hydroxylase deficiency by urinary metabolite ratios using gas chromatography-mass spectrometry analysis: Reference values for neonates and infantsJ. Steroid Biochem. Mol. Biol.15610-16(2016) 2.Schiffer, L., Barnard, L., Baranowski, E.S., et al.Human steroid biosynthesis, metabolism and excretion are differentially reflected by serum and urine steroid metabolomes: A comprehensive reviewJ. Steroid Biochem. Mol. Biol.194105439(2019) 3.Disorders of steroidogenesis guide to steroid profiling and biochemical diagnosis1(2019) 4.Shackleton, C.H.L.Role of a disordered steroid metabolome in the elucidation of sterol and steroid biosynthesisLipids47(1)1-12(2012)
21-Deoxycortisol is a corticosteroid metabolite of 17-hydroxyprogesterone produced in the adrenal glandvia11-hydroxylation by 11β-hydroxylase.1,2Serum levels of 21-deoxycortisol are elevated in patients with congenital adrenal hyperplasia that are heterozygous for mutations inCYP2A21, the gene encoding steroid21-hydroxylase, and have been used as a biomarker for the detection of 21-hydroxylase deficiencies.
16α-Hydroxyetiocholanolone is a metabolite of 16α-hydroxydehydroisoandrosterone (16α-DHEA) and androstenedione.1,2 1.Lai, E.Y., and Solomon, S.The in vivo metabolism of 16ɑ-hydroxydehydroisoandrosterone in manBiochemistry6(7)2040-2052(1967) 2.Christakoudi, S., Cowan, D.A., Christakudis, G., et al.21-hydroxylase deficiency in the neonate - trends in steroid anabolism and catabolism during the first weeks of lifeJ. Steroid Biochem. Mol. Biol.138334-347(2013)