Gas chromatography/mass spectrometry (GC/MS) remains a pre-eminent discovery tool in clinical steroid investigations even in the era of fast liquid chromatography tandem mass spectrometry (LC/MS/MS)

Journal of Steroid Biochemistry and Molecular Biology

Volumn 121, Issue 3-5, 2010, Pages 496-504

  Krone, Nils ^a   Hughes, Beverly A ^a   Lavery, Gareth G ^a   Stewart, Paul M ^a   Arlt, Wiebke ^a   Shackleton, Cedric H L ^a  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

Author keywords

ACRD; Apparent cortisone reductase deficiency; Gas chromatography mass spectrometry; GC MS; ORD; P450 oxidoreductase deficiency; Tandem mass spectrometry

Indexed keywords

CORTISONE; STEROID;

ADULT; CASE REPORT; HUMAN; LIQUID CHROMATOGRAPHY; MASS FRAGMENTOGRAPHY; P450 OXIDOREDUCTASE DEFICIENCY; REVIEW; STEROIDOGENESIS; TANDEM MASS SPECTROMETRY; URINE;

CHILD; CHROMATOGRAPHY, LIQUID; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HUMANS; STEROIDS; TANDEM MASS SPECTROMETRY;

EID: 77955417131     PISSN: 09600760     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jsbmb.2010.04.010     Document Type: Review

References (26)

1. Soldin S.J., Soldin O.P. Steroid hormone analysis by tandem mass spectrometry. Clin. Chem. 2009, 55:1061-1066.
2. Shackleton C.H.L., Marcos P.G.M. Steroid profiling: diagnosis of disorders affecting steroid synthesis and metabolism. The Encyclopedia of Mass Spectrometry 2006, 789-813. Elsevier, Amsterdam. M. Gross, R. Caprioli (Eds.).
3. Shackleton C.H. Genetic disorders of steroid metabolism diagnosed my mass spectrometry. Laboratory Guide to the Methods in Biochemical Genetics 2008, 549-605. Springer, Berlin Heidelberg. 1st ed. N. Blau, M. Duren, K.M. Gibson (Eds.).
4. Shackleton C.H. Profiling steroid hormones and urinary steroids. J. Chromatogr. 1986, 379:91-156.
5. Griffiths W.J., Shackleton C.H.L., Sjövall J. Steroid analysis. The Encyclopedia of Mass Spectrometry 2006, 447-473. Elsevier, Amsterdam. R. Caprioli (Ed.).
6. C.H. Shackleton, Clinical steroid mass spectrometry: a 45-year history culminating in HPLC MS/MS becoming an essential tool for patient diagnosis, J. Steroid. Biochem. Mol. Biol., in press.
7. Minutti C.Z., Lacey J.M., Magera M.J., Hahn S.H., McCann M., Schulze A., Cheillan D., Dorche C., Chace D.H., Lymp J.F., Zimmerman D., Rinaldo P., Matern D. Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia. J. Clin. Endocrinol. Metab. 2004, 89:3687-3693.
8. Janzen N., Peter M., Sander S., Steuerwald U., Terhardt M., Holtkamp U., Sander J. Newborn screening for congenital adrenal hyperplasia: additional steroid profile using liquid chromatography-tandem mass spectrometry. J. Clin. Endocrinol. Metab. 2007, 92:2581-2589.
9. Caulfield M.P., Lynn T., Gottschalk M.E., Jones K.L., Taylor N.F., Malunowicz E.M., Shackleton C.H.L., Reitz R.E., Fisher D.A. The diagnosis of congenital adrenal hyperplasia in the newborn by gas chromatography/mass spectrometry analysis of random urine specimens. J. Clin. Endocrinol. Metab. 2002, 87:3682-3690.
10. Wudy S.A., Hartmann M., Homoki J. Hormonal diagnosis of 21-hydroxylase deficiency in plasma and urine of neonates using benchtop gas chromatography-mass spectrometry. J. Endocrinol. 2000, 165:679-683.
11. Shackleton C.H., Taylor N.F., Honour J.W. An Atlas of Gas Chromatographic Profiles of Neutral Urinary Steroids in Health and in Disease 1980, Packard-Becker, Delft.
12. Peterson R.E., Imperato-McGinley J., Gautier T., Shackleton C. Male pseudohermaphroditism due to multiple defects in steroid-biosynthetic microsomal mixed-function oxidases. A new variant of congenital adrenal hyperplasia. N. Engl. J. Med. 1985, 313:1182-1191.
13. Shackleton C., Malunowicz E. Apparent pregnene hydroxylation deficiency (APHD): seeking the parentage of an orphan metabolome. Steroids 2003, 68:707-717.
14. Fluck C.E., Tajima T., Pandey A.V., Arlt W., Okuhara K., Verge C.F., Jabs E.W., Mendonca B.B., Fujieda K., Miller W.L. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat. Genet. 2004, 36:228-230.
15. Arlt W., Walker E.A., Draper N., Ivison H.E., Ride J.P., Hammer F., Chalder S.M., Borucka-Mankiewicz M., Hauffa B.P., Malunowicz E.M., Stewart P.M., Shackleton C.H. Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study. Lancet 2004, 363:2128-2135.
16. Shackleton C., Marcos J., Malunowicz E.M., Szarras-Czapnik M., Jira P., Taylor N.F., Murphy N., Crushell E., Gottschalk M., Hauffa B., Cragun D.L., Hopkin R.J., Adachi M., Arlt W. Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis. Am. J. Med. Genet. 2004, 128A:223-231.
17. Shackleton C., Marcos J., Arlt W., Hauffa B.P. Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): a disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley-Bixler syndrome phenotype. Am. J. Med. Genet. 2004, 129A:105-112.
18. Wilson J.D, Auchus R.J., Leihy M.W., Guryev O.L., Estabrook R.W., Osborn S.M., Shaw G., Renfree M.B. 5α-Androstane-3α,17β-diol is formed in Tammar Wallaby Pouch young testes by a pathway involving 5α-pregnane-3α,17α-diol-20-one as a key intermediate. Endocrinology 2003, 144:575-580.
19. Homma K., Hasegawa T., Nagai T., Adachi M., Horikawa R., Fujiwara I., Tajima T., Takeda R., Fukami M., Ogata T. Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosterone. J. Clin. Endocrinol. Metab. 2006, 91:2643-2649.
20. Shackleton C.H., Marcos J., Palomaki G.E., Craig W.Y., Kelley R.I., Kratz L.E., Haddow J.E. Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS). Am. J. Med. Genet. 2007, 143A:2129-2136.
21. Marcos J., Craig W.Y., Palomaki G.E., Kloza E.M., Haddow J.E., Roberson M., Bradley L.A., Shackleton C.H. Maternal urine and serum steroid measurements to identify steroid sulfatase deficiency (STSD) in second trimester pregnancies. Prenat. Diagn. 2009, 29:771-780.
22. Taylor N.F., Barlett W.A., Dawson D.J. Cortisone reductase deficiency: evidence for a new inborn error of metabolism. J. Endocrinol. 1984, 102:90.
23. Phillipou G., Higgins B.A. A new defect in the peripheral conversion of cortisone to cortisol. J. Steroid Biochem. 1985, 22:435-436.
24. Phillipov G., Palermo M., Shackleton C.H. Apparent cortisone reductase deficiency: a unique form of hypercortisolism. J. Clin. Endocrinol. Metab. 1996, 81:3855-3860.
25. Lavery G.G., Walker E.A., Tiganescu A., Ride J.P., Shackleton C.H., Tomlinson J.W., Connell J.M., Ray D.W., Biason-Lauber A., Malunowicz E.M., Arlt W., Stewart P.M. Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency. J. Clin. Endocrinol. Metab. 2008, 93:3827-3832.
26. Taylor R.L., Machacek D., Singh R.J. Validation of a high-throughput liquid chromatography-tandem mass spectrometry method for urinary cortisol and cortisone. Clin. Chem. 2002, 48:1511-1519.