Pharmacogenetics of glucocorticoid replacement could optimize the treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Clinics

Volumn 66, Issue 8, 2011, Pages 1361-1365

  Moreira, Ricardo P P ^a   Jorge, Alexander A L ^a   Gomes, Larissa G ^a   Kaupert, Laura C ^a   Filho, João Massud ^b   Mendonca, Berenice B ^a   Bachega, Tânia A S S ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

1C allele; 21 hydroxylase deficiency; CYP3A7; Glucocorticoid replacement therapy; Pharmacogenetics; Polymorphism

Indexed keywords

CORTISONE; CORTISONE ACETATE; DRUG DERIVATIVE; GLUCOCORTICOID; OXIDOREDUCTASE;

ARTICLE; CHILD; CONGENITAL ADRENAL HYPERPLASIA; ENZYMOLOGY; FEMALE; GENETIC POLYMORPHISM; GENETICS; HORMONE SUBSTITUTION; HUMAN; INFANT; MALE; PRESCHOOL CHILD;

ADRENAL HYPERPLASIA, CONGENITAL; CHILD; CHILD, PRESCHOOL; CORTISONE; FEMALE; GLUCOCORTICOIDS; HORMONE REPLACEMENT THERAPY; HUMANS; INFANT; MALE; OXIDOREDUCTASES; POLYMORPHISM, GENETIC;

EID: 80052745162     PISSN: 18075932     EISSN: None     Source Type: Journal    
DOI: 10.1590/S1807-59322011000800009     Document Type: Article

References (25)

1. Speiser PW, White PC. Congenital adrenal hyperplasia. N Engl J Med. 2003;9:776-88, doi: 10.1056/NEJMra021561.
2. Demirci C, Witchel SF. Congenital adrenal hyperplasia. Dermatol Ther. 2008;21:340-53, doi: 10.1111/j.1529-8019.2008.00216.x.
3. Gasparini N, Di Maio S, Salerno M, Argenziano A, Franzese A, Tenore A. Growth pattern during the first 36 months of life in congenital adrenal hyperplasia (21-hydroxylase deficiency). Horm Res. 1997;47:17-22, doi:10.1159/000185361.
4. Nordenstrom A, Marcus C, Axelson M, Wedell A, Ritzen EM. Failure of cortisone acetate treatment in congenital adrenal hyperplasia because of defective 11beta-hydroxysteroid dehydrogenase reductase activity. J Clin Endocrinol Metab. 1999;84:1210-3, doi: 10.1210/jc.84.4.1210.
5. Balsamo A, Cicognani A, Baldazzi L, Barbaro M, Baronio F, Gennari M, et al. CYP21 genotype, adult height, and pubertal development in 55 patients treated for 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2003;88:5680-8, doi: 10.1210/jc.2003-030123.
6. Bonfig W, Bechtold S, Schmidt H, Knorr D, Schwarz HP. Reduced final height outcome in congenital adrenal hyperplasia under prednisone treatment: deceleration of growth velocity during puberty. J Clin Endocrinol Metab. 2007;92:1635-9, doi: 10.1210/jc.2006-2109.
7. Muthusamy K, Elamin MB, Smushkin G, Murad MH, Lampropulos JF, Elamin KB, et al. Clinical review: Adult height in patients with congenital adrenal hyperplasia: a systematic review and metaanalysis. J Clin Endocrinol Metab. 2010;95:4161-72, doi: 10.1210/jc.2009-2616.
8. Bryan SM, Honour JW, Hindmarsh PC. Management of altered hydrocortisone pharmacokinetics in a boy with congenital adrenal hyperplasia using a continuous subcutaneous hydrocortisone infusion. J Clin Endocrinol Metab. 2009;94:3477-80, doi: 10.1210/jc.2009-0630.
9. Lovas K, Gjesdal CG, Christensen M, Wolff AB, Almas B, Svartberg J, et al. Glucocorticoid replacement therapy and pharmacogenetics in Addison's disease: effects on bone. Eur J Endocrinol. 2009;160:993-1002, doi: 10.1530/EJE-08-0880.
10. Ingelman-Sundberg M, Sim SC, Gomez A, Rodriguez-Antona C. Influence of cytochrome P450 polymorphisms on drug therapies: pharmacogenetic, pharmacoepigenetic and clinical aspects. Pharmacol Ther. 2007;116:496-526, doi: 10.1016/j.pharmthera.2007.09.004.
11. Burk O, Tegude H, Koch I, Hustert E, Wolbold R, Glaeser H, et al. Molecular mechanisms of polymorphic CYP3A7 expression in adult human liver and intestine. J Biol Chem. 2002;277:24280-8, doi: 10.1074/ jbc.M202345200.
12. Goodarzi MO, Xu N, Azziz R. Association of CYP3A7*1C and serum dehydroepiandrosterone sulfate levels in women with polycystic ovary syndrome. J Clin Endocrinol Metab. 2008;93:2909-12, doi: 10.1210/jc.2008-0403.
13. Tomlinson JW, Walker EA, Bujalska IJ, Draper N, Lavery GG, Cooper MS, et al. 11beta-hydroxysteroid dehydrogenase type 1: a tissue-specific regulator of glucocorticoid response. Endocr Rev. 2004;25:831-66, doi: 10.1210/er.2003-0031.
14. Draper N, Walker EA, Bujalska IJ, Tomlinson JW, Chalder SM, Arlt W, et al. Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency. Nat Genet. 2003;34:434-9, doi: 10.1038/ ng1214.
15. Miller WL, Huang N, Agrawal V, Giacomini KM. Genetic variation in human P450 oxidoreductase. Mol Cell Endocrinol. 2009;300:180-4, doi: 10.1016/j.mce.2008.09.017.
16. Bachega TA, Billerbeck AE, Madureira G, Arnhold IJ, Medeiros MA, Marcondes JA, et al. Low frequency of CYP2B deletions in Brazilian patients with congenital adrenal hyperplasia due to 21-hydroxylas deficiency. Hum Hered. 1999;49:9-14, doi: 10.1159/000022833.
17. Robitaille J, Brouillette C, Houde A, Despres JP, Tchernof A, Vohl MC. Molecular screening of the 11beta-hsd1 gene in men characterized by the metabolic syndrome. Obes Res. 2004;12:1570-75, doi: 10.1038/oby.2004.196.
18. Merke DP, Keil MF, Jones JV, Fields J, Hill S, Cutler GB Jr. Flutamide, testolactone, and reduced hydrocortisone dose maintain normal growth velocity and bone maturation despite elevated androgen levels in children with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2000;85:1114-20, doi: 10.1210/jc.85.3.1114.
19. Pinto G, Tardy V, Trivin C, Thalassinos C, Lortat-Jacob S, Nihoul-Fekete C, et al. Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Relevance of genotype for management. J Clin Endocrinol Metab. 2003;88:2624-33, doi: 10.1210/jc.2002-021433.
20. Charmandari E, Hindmarsh PC, Johnston A, Brook CG. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Alterations in cortisol pharmacokinetics at puberty. J Clin Endocrinol Metab. 2001;86:2701-08, doi: 10.1210/jc.86.6.2701.
21. Schuetz JD, Beach DL, Guzelian PS. Selective expression of cytochrome P450 CYP3A mRNAs in embryonic and adult human liver. Pharmacogenetics. 1994;4:11-20, doi: 10.1097/00008571-199402000-00002.
22. Miller KK, Cai J, Ripp SL, Pierce WM Jr., Rushmore TH, Prough RA. Stereoand regioselectivity account for the diversity of dehydroepiandrosterone (DHEA) metabolites produced by liver microsomal cytochromes P450. Drug Metab Dispos. 2004;32:305-13, doi: 10.1124/dmd.32.3.305.
23. Kovac MK, Maslac AR, Rakicevic LB, Radojkovic DP. The c.-1639G. A polymorphism of the VKORC1 gene in Serbian population: retrospective study of the variability in response to oral anticoagulant therapy. Blood Coagul Fibrinolysis. 2010;21:558-63, doi: 10.1097/MBC.0b013e32833c2988.
24. Anglicheau D, Legendre C, Thervet E. Pharmacogenetics of tacrolimus and sirolimus in renal transplant patients: from retrospective analyses to prospective studies. Transplant Proc. 2007;39:2142-4, doi: 10.1016/j. transproceed.2007.06.018.
25. Gervasini G, Benítez J, Carrillo JA. Pharmacogenetic testing and therapeutic drug monitoring are complementary tools for optimal individualization of drug therapy. Eur J Clin Pharmacol. 2010;66:755-74, doi: 10.1007/s00228-010-0857-7.