Plasma corticosteroid profiling: Brief opinion of its current status in clinical diagnosis and research

Expert Review of Endocrinology and Metabolism

Volumn 5, Issue 2, 2010, Pages 181-188

  Ingram, Mary C ^a   Fraser, Robert ^a  

^a UNIVERSITY OF GLASGOW   (United Kingdom)

Author keywords

Congenital adrenal hyperplasia; Corticosteroid genetic polymorphism; Corticosteroid liquid chromatography with tandem mass spectrometry; Plasma corticosteroid profile; Population hydroxylase variability

Indexed keywords

3(OR 17)BETA HYDROXYSTEROID DEHYDROGENASE; 3BETA HYDROXYSTEROID DEHYDROGENASE TYPE 2; ALDOSTERONE; ALDOSTERONE SYNTHASE; ANDROGEN; CHOLESTEROL MONOOXYGENASE (SIDE CHAIN CLEAVING); CORTICOTROPIN; HYDROCORTISONE; STEROID 11BETA MONOOXYGENASE; STEROID 17ALPHA MONOOXYGENASE; STEROID 21 MONOOXYGENASE; UNCLASSIFIED DRUG;

ADRENAL CELL; ADRENAL CORTEX; BLOOD ANALYSIS; CATALYSIS; CHOLESTEROL METABOLISM; CLINICAL RESEARCH; CONGENITAL ADRENAL HYPERPLASIA; CORTICOSTEROID BLOOD LEVEL; DIAGNOSTIC VALUE; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME MECHANISM; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; HYPERALDOSTERONISM; IN VITRO STUDY; LIQUID CHROMATOGRAPHY; MALE PSEUDOHERMAPHRODITISM; PATHOGENESIS; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REVIEW; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; STEROID RELEASE; STEROIDOGENESIS; TANDEM MASS SPECTROMETRY; ZONA FASCICULATA; ZONA GLOMERULOSA;

EID: 77949599242     PISSN: 17446651     EISSN: None     Source Type: Journal    
DOI: 10.1586/eem.09.76     Document Type: Review

References (36)

1. Fraser R, Gower DB, Honour JW et al. Analysis of corticosteroids. In: Steroid Analysis. Makin HLJ, Gower DB (Eds). Blackie Academic and Professional, London, UK (1995).
2. Riepe FG, Krone N, Peter M, Sippell WG, Partsch CJ. Chromatographic system for the simultaneous measurement of plasma 18-hydroxy-11- deoxycorticosterone and 18-hydroxycorticosterone by RIA: reference data for neonates and infants and application to aldosterone synthase deficiency. J. Chromatogr. B Analyt. Technol. Biomed. Life Sci. 785, 293-301 (2003).
3. Nithipatikom K, Holmes BB, Isbell MA, Gomez-Sanchez CE, Campbell WB. Measurement of steroid synthesis by liquid chromatography-electrospray ionisation ionisation mass spectrometry: inhibition by nitric oxide. Anal. Biochem. 337, 203-210 (2005).
4. Guo T, Taylor RL, Singh RJ, Soldin J. Simultaneous determination of 12 steroids by isotope dilution liquid chromatography-photospray ionization tandem mass spectrometry. Clin. Chim. Acta 372, 76-82 (2006).
5. Soldin SJ, Soldin OP. Steroid hormone analysis by tandem mass spectrometry. Clin. Chem. 55, 101-106 (2009).
6. Storbeck K-H, Kolar NW, Stande M, Swart AC, Prevoo D, Swart P. The development of an ultra performance liquid chromatography-coupled atmospheric pressure chemical ionization mass spectrometry assay for seven adrenal steroids. Anal. Biochem. 372, 11-20 (2008).
7. Turpeinen U, Hamalainen E, Stenman UH. Determination of aldosterone in serum by liquid chromatography-tandem mass spectrometry. J. Chromatogr. B Analyt. Technol. Biomed. Life Sci. 862, 113-118 (2008).
8. Fraser R. Inborn errors of corticosteroid biosynthesis and metabolism; their effects on electrolyte metabolism. In: Handbook of Hypertension (Volume 15): Clinical Hypertension. Birkenhager WH, Reid JL, Robertson JIS (Eds). Elsevier, Amsterdam, The Netherlands 420-460 (2009).
9. Bose HS, Sugawara T, Strauss JF, Miller WL. The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. N. Engl. J. Med. 335, 1870-1879 (1996).
10. Saenga P, Klonari Z, Black SM et al. Prenatal diagnosis of congenital lipoid adrenal hyperplasia. J. Clin. Endocr. Metab. 80, 200-205 (1995).
11. Degenhart HJ, Visser KHA, Boon H, O'Doherty NJD. Evidence for deficiency of 20a-cholesterol hydroxylase activity in adrenal tissue of a patient with lipoid adrenal hyperplasia. Acta Endocrinol. (Kbh) 71, 512-518 (1972).
12. Miller WL. Why nobody has P450scc (20,22 desmolase) deficiency. J. Clin. Endocr. Metab. 3, 1399-1400 (1998).
13. Rheaume E, Simard J, Morel Y et al. Congenital adrenal hyperplasia due to point mutations in the type II 3b-hydoxysteroid dehydrogenase gene. Nat. Genet. 1, 239-245 (1992).
14. Kater CE, Biglieri EG. Disorders of 17a-hydroxylase deficiency. Endocrinol. Metab. Clin. N. Am. 23, 341-357 (1994).
15. Martin R, Lin CJ, Costa EMF et al. P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by genotyping. J. Clin. Endocr. Metab. 88, 5739-5746 (2003).
16. New MI. Diagnosis and management of congenital adrenal hyperplasia. Ann. Rev. Med. 49, 311-328 (1998).
17. White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr. Rev. 21(3), 245-291 (2000).
18. Speiser PW, White PC. Congenital adrenal hyperplasia. N. Engl. J. Med. 349, 776-788 (2003).
19. New MI, Nimkarn S. 21-hydroxylase-deficient congenital adrenal hyperplasia. Endocrinol. Metab. Clin. North Am. 38(4), 699-718 (2009).
20. Spoudeas HA, Slater JDH, Rumsby G, Honour JW, Brook CGD. Deoxycorticosterone, 11b-hydroxylase and the adrenal cortex. Clin. Endocrinol. 39, 245-251 (1993).
21. White PC, Curnow K, Pascoe L. Disorders of 11b-hydroxylase isoenzymes. Endocr. Rev. 15, 421-438.
22. Peter M. Congenital adrenal hyperplasia: 11b-hydroxylase deficiency. Semin. Reprod. Med. 20, 249-254 (2002).
23. Krone N, Riepe FG, Gotze D et al. Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: functional characterisation of two novel point mutations and a three-base pair deletion in the CYP1B1 gene. J. Clin. Endocr. Metab. 90, 3724-3730 (2005).
24. Krone N, Grischuk Y, Muller M et al. Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene causing congenital adrenal hyperplasia resulting from 11-hydroxylase deficiency. J. Clin. Endoc. Metab. 91, 2682-2688 (2006).
25. White PC. Aldosterone deficiency and related disorders. Mol. Cell. Endocrinol. 217, 81-87 (2004).
26. Portrat-Doyen S, Tourniaire J, Richard O et al. Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene. J. Clin. Endocr. Metab. 83, 4156-4161 (1998).
27. Holst JP, Soldin SJ, Tractenberg RE et al. Use of steroid profiles in determining the cause of adrenal insufficiency. Steroids 72, 71-84 (2007).
28. Connell JMC, MacKenzie SM, Freel EM, Fraser R, Davies E. A lifetime of aldosterone excess: long-term consequences of altered regulation of aldosterone production for cardiovascular function. Endocr. Rev. 29, 133-154 (2008).
29. White PC, Slutsker L. Haplotype analysis of CYP11B2. Endocr. Res. 21, 437-442 (1995).
30. Barr M, MacKenzie SM, Wilkinson D et al. Functional effects of genetic variants in the 11b-hydroxylase (CYP11B1) gene. Clin. Endocr. 65, 816-825 (2006).
31. Barr M, MacKenzie SM, Friel E et al. Polymorphic variation in the 11b-hydroxylase gene associates with reduced 11-hydroxylase efficiency. Hypertension 49, 113-119 (2007).
32. Holloway CD, MacKenzie SM, Fraser R et al. Effects of genetic variation in the aldosterone synthase (CYP11B2) gene on enzyme function. Clin. Endocr. 70, 363-371 (2009).
33. Rainey WE, Saner K, Schimmer BP. Adrenocortical cell lines. Mol. Cell. Endocrinol. 228, 23-38 (2004).
34. Bird IM, Hanley NA, Word A et al. Human NCI-H295 adrenocortical carcinoma cells: a model for angiotensin II-responsive aldosterone secretion. Endocrinology 133, 1555-1561 (1993).
35. Gazdar AF, Oie H, Shackleton CH et al. Establishment and characterization of a human adrenocortical cancer cell line that expresses multiple pathways of steroid biosynthesis. Cancer Res. 50, 5488-5496 (1990).
36. Samandari E, Kempna P, Nuoffer J-M, Hofer G, Mullis PE, Fluck CE. Human adrenal corticocarcinoma NCL-H257R cells produce more androgens than NCL-H259A cells an differ in 3b-hydroxysteroid dehydrogenase and 17,20-lyase activities. J. Endocrinol. 195, 459-472 (2007).