Steroids excreted in urine by neonates with 21-hydroxylase deficiency: Characterization, using GC-MS and GC-MS/MS, of the D-ring and side chain structure of pregnanes and pregnenes

Steroids

Volumn 75, Issue 1, 2010, Pages 34-52

  Christakoudi, Sofia ^a   Cowan, David A ^b   Taylor, Norman F ^a  

^a KING S COLLEGE HOSPITAL   (United Kingdom)

^b KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

CYP21A2; D ring; GC MS MS; Neonate; Pregnane; Urine

Indexed keywords

17,21 DIHYDROXYLATED PREGNANE DERIVATIVE; BORANE DERIVATIVE; HYDROXYL GROUP; PREGNANE DERIVATIVE; STEROID 21 MONOOXYGENASE; UNCLASSIFIED DRUG;

ARTICLE; CHEMICAL STRUCTURE; CONTROLLED STUDY; HUMAN; ION TRAP MASS SPECTROMETRY; MAJOR CLINICAL STUDY; MASS FRAGMENTOGRAPHY; NEWBORN; STEROID 21 MONOOXYGENASE DEFICIENCY; STEROID METABOLISM; URINALYSIS;

17-ALPHA-HYDROXYPROGESTERONE; ADRENAL HYPERPLASIA, CONGENITAL; CHROMATOGRAPHY, GAS; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HUMANS; HYDROXYLATION; HYDROXYPROGESTERONES; INFANT; INFANT, NEWBORN; PREGNANES; PREGNENES; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION; STEROID 21-HYDROXYLASE; STEROIDS;

EID: 71849112937     PISSN: 0039128X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.steroids.2009.09.011     Document Type: Article

References (48)

1. Caulfield M.P., Lynn T., Gottschalk M.E., Jones K.L., Taylor N.F., Malunowicz E.M., et al. The diagnosis of congenital adrenal hyperplasia in the newborn by gas chromatography/mass spectrometry analysis of random urine specimens. J Clin Endocrinol Metab 87 (2002) 3682-3690
2. Honour J.W., and Brook C.G. Clinical indications for the use of urinary steroid profiles in neonates and children. Ann Clin Biochem 34 (1997) 45-54
3. Shackleton C.H.L. Profiling steroid hormones and urinary steroids. J Chromatogr 379 (1986) 91-156
4. Shackleton C.H.L. Congenital adrenal hyperplasia caused by defect in steroid 21-hydroxylase. Establishment of definitive urinary steroid excretion pattern during first weeks of life. Clin Chim Acta 67 (1976) 287-298
5. McCarver D.G., and Hines R.N. The ontogeny of human drug-metabolizing enzymes: phase II conjugation enzymes and regulatory mechanisms. J Pharmacol Exp Ther 300 (2002) 361-366
6. Kraan G.P.B., Wolthers B.G., van der Molen J.C., Nagel G.T., Drayer N.M., and Joannou G.E. New identified 15β-hydroxylated 21-deoxy-pregnanes in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Steroid Biochem Mol Biol 45 (1993) 421-434
7. Steen G., Tas A.C., de Brauw M.C.T., Drayer N.M., and Wolthers B.G. The early recognition of the 21-hydroxylase deficiency variety of congenital adrenal hyperplasia. Clin Chim Acta 105 (1980) 213-224
8. Sjovall J. Fifty years with bile acids and steroids in health and disease. Lipids 39 (2004) 703-722
9. 21 steroids in the neo-natal period: the role of 3α,15β,17α-trihydroxy-5β-pregnan-20-one in the perinatal diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. J Steroid Biochem 14 (1981) 901-912
10. Swart P., Swart A.C., Waterman M.R., Estabrook R.W., and Mason J.I. Progesterone 16α-hydroxylase activity is catalyzed by human cytochrome P450 17α-hydroxylase. J Clin Endocrinol Metab 77 (1993) 98-102
11. Winkel C.A., Casey M.L., Worley R.J., Madden J.D., and MacDonald P.C. Extraadrenal steroid 21-hydroxylase activity in a woman with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. J Clin Endocrinol Metab 56 (1983) 104-107
12. Shackleton C.H.L., Homoki J., and Taylor N.F. A paradox: elevated 21-hydroxypregnenolone production in newborns with 21-hydroxylase deficiency. Steroids 49 (1987) 295-311
13. Mellon S.H., and Miller W.L. Extraadrenal steroid 21-hydroxylation is not mediated by P450c21. J Clin Invest 84 (1989) 1497-1502
14. Gomes L.G., Huang N., Agrawal V., Mendonça B.B., Bachega T.A.S.S., and Miller W.L. Extraadrenal 21-hydroxylation by CYP2C19 and CYP3A4: effect on 21-hydroxylase deficiency. J Clin Endocrinol Metab 94 (2009) 89-95
15. Sjovall J., and Axelson M. Newer approaches to the isolation, identification and quantification of steroids in biological materials. Vitam Horm 39 (1982) 31
16. Shackleton C.H. Mass spectrometry: application to steroid and peptide research. Endocr Rev 6 (1985) 441-486
17. Gambelunghe C., Sommavilla M., Ferranti C., Rossi R., Aroni K., Manes N., et al. Analysis of anabolic steroids in hair by GC/MS/MS. Biomed Chromatogr 21 (2007) 369-375
18. Marcos V., Perogordo E., Espinosa P., De Pozuelo M.M., and Hooghuis H. Multiresidue analysis of anabolic compounds in bovine hair by gas chromatography-tandem mass spectrometry. Anal Chim Acta 507 (2004) 219-227
19. Nielen M.W.F., Lasaroms J.J.P., Essers M.L., Sanders M.B., Heskamp H.H., Bovee T.F.H., et al. The ultimate veal calf reference experiment: hormone residue analysis data obtained by gas and liquid chromatography tandem mass spectrometry. Anal Chim Acta 586 (2007) 30-34
20. Cheng M.T., Barbalas M.P., Pegues R.F., and McLafferty F.W. Tandem mass spectrometry: structural and stereochemical information from steroids. J Am Chem Soc 105 (1983) 1510-1513
21. Taylor N.F. Urinary steroid profiling. In: Wheeler M.J., and Hutchinson J.S.M. (Eds). Hormone assays in biological fluids (2006), Humana Press, Totowa, New Jersey 159-175
22. Shackleton C.H.L., and Whitney J.O. Use of Sep-Pak (R) cartridges for urinary steroid extraction: evaluation of the method for use prior to gas chromatographic analysis. Clin Chim Acta 107 (1980) 231-243
23. Setchell K.D.R., Gontscharow N.P., Axelson M., and Sjovall J. The identification of 3α,6β,11β,17,21-pentahydroxy-5β-pregnan-20-one (6β-hydroxy-THF) - the major urinary steroid of the baboon (Papio papio). J Steroid Biochem 7 (1976) 801-808
24. Shackleton C.H.L., Gustafsson J.A., and Sjovall J. Steroids in newborns and infants. Identification of steroids in urine from newborn infants. Steroids 17 (1971) 265-280
25. 21 steroids in faeces from infants. Eur J Biochem 10 (1969) 302-311
26. Gachancard-Bouya J.-L.J., and Begue R.-J. Urinary steroids from a newborn human infant. Identification of 2α-hydroxy-4-pregnene-3,20-dione, 3β,15β-dihydroxy-5-pregnen-20-one and 3β,15α-dihydroxy-5-pregnen-20-one. J Steroid Biochem Mol Biol 49 (1994) 213-226
27. 21 steroids in faeces from germfree rats. Eur J Biochem 6 (1968) 236-247
28. Janne O.A., and Vihko R.K. Neutral steroids in urine during pregnancy. Identification of sulphate-conjugated 3β,15α-dihydroxy-5α-pregnan-20-one, 3-β,15α-dihydroxy-5β-pregnan-20-one and 5-pregnene-3β,15β,17α,20α-tetrol. Eur J Biochem 17 (1970) 134-140
29. Vouros P., and Harvey D.J. Method for selective introduction of trimethylsilyl and perdeuterotrimethylsilyl groups in hydroxy steroids and its utility in mass spectrometric interpretations. Anal Chem 45 (1973) 7-12
30. Brooks C.J.W., and Harvey D.J. Gas chromatographic and mass spectrometric studies of oximes derived from 20-oxosteroids. Steroids 15 (1970) 283-301
31. Gustafsson B.E., Gustafsson J.A., and Sjovall J. Steroids in germfree and conventional rats. 2. Identification of 3α,16α-dihydroxy-5α-pregnan-20-one and related compounds in faeces from germfree rats. Eur J Biochem 4 (1968) 568-573
32. Ramirez L.C., Bournot P., and Maume B.F. Bioconversion of 16α-hydroxyprogesterone to 16α-hydroxylated corticosteroids by newborn rat adrenal cells in primary culture. Biochim Biophys Acta 886 (1986) 275-285
33. 21 steroids. Reciprocal exchange of trimethylsilyl groups. Biomed Mass Spectrom 7 (1980) 217-225
34. Gustafsson J.A., Ryhage R., Sjovall J., and Moriarty R.M. Migrations of the trimethylsilyl group upon electron impact in steroids. J Am Chem Soc 91 (1969) 1234-1236
35. Lisboa B.P., and Gustafsson J.A. Biosynthesis of 18-hydroxytestosterone in the human foetal liver. Eur J Biochem 9 (1969) 402-405
36. van der Ploeg K.R., Wolthers B.G., Nagel G.T., Volmer M., and Drayer N.M. The diagnosis of 21-hydroxylase deficiency in a prematurely born infant on the basis of the urinary steroid excretion pattern. Clin Chim Acta 120 (1982) 341-353
37. Shackleton C.H.L. Steroid synthesis and catabolism in the fetus and neonate. In: Makin H.L.J. (Ed). Biochemistry of steroid hormones (1984), Blackwell Scientific Publications, Oxford 441-477
38. Taylor N.F., Curnow D.H., and Shackleton C.H.L. Analysis of glucocorticoid metabolites in the neonatal period: catabolism of cortisone acetate by an infant with 21-hydroxylase deficiency. Clin Chim Acta 85 (1978) 219-229
39. Setchell K.D.R., Axelson M., Sjovall J., Kirk D.N., and Morgan R.E. The identification of 6α-hydroxytetrahydrocortisol (3α,6α,11β,17α,21-pentahydroxy-5β-pregnan-20-one) in urine. FEBS Lett 88 (1978) 215-218
40. Hammerum S., and Djerassi C. Mass spectrometry in structural and stereochemical problems CCXLV. [1] The electron impact induced fragmentation reactions of 17-oxygenated progesterones. Steroids 25 (1975) 817-826
41. Tokes L., LaLonde R.T., and Djerassi C. Mass spectrometry in structural and stereochemical problems. CXXVII. Synthesis and fragmentation behavior of deuterium-labeled 20-keto steroids. J Org Chem 32 (1967) 1020-1029
42. Tokes L., Jones G., and Djerassi C. Mass spectrometry in structural and stereochemical problems. CLXI. Elucidation of the course of the characteristic ring D fragmentation of steroids. J Am Chem Soc 90 (1968) 5465-5477
43. Hammerum S., and Djerassi C. Mass spectrometry in structural and stereochemical problems. CCXLIV. The influence of substituents and stereochemistry on the mass spectral fragmentation of progesterone. Tetrahedron 31 (1975) 2391-2400
44. Christakoudi S., Cowan D.A., and Taylor N.F. Sodium ascorbate improves yield of urinary steroids during hydrolysis with Helix pomatia juice. Steroids 73 (2008) 309-319
45. Kitada M., Kamataki T., Itahashi K., Rikihisa T., and Kanakubo Y. P-450 HFLa, a form of cytochrome P-450 purified from human fetal livers, is the 16α-hydroxylase of dehydroepiandrosterone 3-sulfate. J Biol Chem 262 (1987) 13534-13537
46. Niwa T., Yabusaki Y., Honma K., Matsuo N., Tatsuta K., Ishibashi F., et al. Contribution of human hepatic cytochrome P450 isoforms to regioselective hydroxylation of steroid hormones. Xenobiotica 28 (1998) 539-547
47. Yamazaki H., and Shimada T. Progesterone and testosterone hydroxylation by cytochromes P450 2C19, 2C9, and 3A4 in human liver microsomes. Arch Biochem Biophys 346 (1997) 161-169
48. Kishimoto W., Hiroi T., Shiraishi M., Osada M., Imaoka S., Kominami S., et al. Cytochrome P450 2D catalyze steroid 21-hydroxylation in the brain. Endocrinology 145 (2004) 699-705