Abiraterone acetate to lower androgens in women with classic 21-hydroxylase deficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 99, Issue 8, 2014, Pages 2763-2770

  Auchus, Richard J ^a   Buschur, Elizabeth O ^a   Chang, Alice Y ^b   Hammer, Gary D ^a   Ramm, Carole ^a   Madrigal, David ^a   Wang, George ^c   Gonzalez, Martha ^c   Xu, Xu Steven ^c   Smit, Johan W ^d   Jiao, James ^c   Yu, Margaret K ^d  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b MAYO CLINIC   (United States)

^c JANSSEN RESEARCH AND DEVELOPMENT   (United States)

^d JANSSEN RESEARCH AND DEVELOPMENT   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

17-ALPHA-HYDROXYPROGESTERONE; ADRENAL HYPERPLASIA, CONGENITAL; ADULT; ANDROGEN ANTAGONISTS; ANDROGENS; ANDROSTADIENES; ANDROSTENEDIONE; ANDROSTERONE; DESOXYCORTICOSTERONE; DOSE-RESPONSE RELATIONSHIP, DRUG; FEMALE; HUMANS; HYDROCORTISONE; TREATMENT OUTCOME;

EID: 84905825222     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2014-1258     Document Type: Article

References (38)

1. White PC, Speiser PW. Congenital adrenal hyperplasia due to 21- hydroxylase deficiency. Endocr Rev. 2000;21:245-291.
2. Speiser PW, White PC. Congenital adrenal hyperplasia. N Engl J Med. 2003;349:776-788.
3. Higashi Y, Tanae A, Inoue H, Fujii-Kuriyama Y. Evidence for frequent gene conversions in the steroid 21-hydroxylase (P-450c21) gene: implications for steroid 21-hydroxylase deficiency.AmJHum Genet. 1988;42:17-25.
4. Donohoue PA, Van Dop C, McLean RH, White PC, Jospe N, Migeon CJ. Gene conversion in salt-losing congenital adrenal hyperplasia with absent complement C4B protein. J Clin Endocrinol Metab. 1986;62:995-1002.
5. Morel Y, David M, Forest MG, et al. Gene conversions and rearrangements cause discordance between inheritance of forms of 21- hydroxylase deficiency and HLA types. J Clin Endocrinol Metab. 1989;68:592-599.
6. White PC, Grossberger D, Onufer BJ, et al. Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man. Proc Natl Acad Sci USA. 1985;82:1089-1093.
7. Higashi Y, Yoshioka H, Yamane M, Gotoh O, Fujii-Kuriyama Y. Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and genuine gene. Proc Natl Acad Sci USA. 1986;83:2841-2845.
8. Therrell BLJ, Berenbaum SA, Manter-Kapanke V, et al. Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia. Pediatrics. 1998;101:583-590.
9. Speiser PW, Dupont B, Rubinstein P, Piazza A, Kastelan A, NewMI. High frequency of nonclassical steroid 21-hydroxylase deficiency. Am J Hum Genet. 1985;37:650-667.
10. Speiser PW, NewMI, TanninGM, Pickering D, Yang SY, White PC. Genotype of Yupik Eskimos with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Hum Genet. 1992;88:647-648.
11. Miller WL, Auchus RJ. The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders. Endocr Rev. 2011;32:81-151.
12. Speiser PW, Azziz R, Baskin LS, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2010;95: 4133-4160.
13. Arlt W, Willis DS, Wild SH, et al. Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 patients. J Clin Endocrinol Metab. 2010;95:5110-5121.
14. Finkielstain GP, Kim MS, Sinaii N, et al. Clinical characteristics of a cohort of 244 patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2012;97:4429-4438.
15. Bonfig W, Pozza SB, Schmidt H, Pagel P, Knorr D, Schwarz HP. Hydrocortisone dosing during puberty in patients with classical congenital adrenal hyperplasia: an evidence-based recommendation. J Clin Endocrinol Metab. 2009;94:3882-3888.
16. Potter GA, Barrie SE, Jarman M, Rowlands MG. Novel steroidal inhibitors of human cytochrome P45017- (17-hydroxylase-C17, 20- lyase): potential agents for the treatment of prostatic cancer. J Med Chem. 1995;38:2463-2471.
17. de Bono JS, Logothetis CJ, Molina A, et al. Abiraterone and increased survival in metastatic prostate cancer. N Engl J Med. 2011; 364:1995-2005.
18. Ryan CJ, Smith MR, de Bono JS, et al. Abiraterone in metastatic prostate cancer without previous chemotherapy. N Engl J Med. 2013;368:138-148.
19. Costa-Santos M, Kater CE, Auchus RJ. Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency. J Clin Endocrinol Metab. 2004;89:49-60.
20. Auchus RJ. Genetic deficiencies of cytochrome P450c17 (CYP17A1): combined 17-hydroxylase/17, 20-lyase and isolated 17, 20-lyase deficiency. In: New MI, ed. Genetic Steroid Disorders. Waltham, MA: Elsevier; 2014:111-123.
21. Attard G, Reid AHM, Auchus RJ, et al. Clinical and biochemical consequences of CYP17A1 inhibition with abiraterone given with and without exogenous glucocorticoids in castrate men with advanced prostate cancer. J Clin Endocrinol Metab. 2012;97:507-516.
22. Auchus ML, Auchus RJ. Human steroid biosynthesis for the oncologist. J Invest Med. 2012;60:495-503.
23. Attard G, Reid AH, A'Hern R, et al. Selective inhibition of CYP17 with abiraterone acetate is highly active in the treatment of castration- resistant prostate cancer. J Clin Oncol. 2009;27:3742-3748.
24. Verma S, Vanryzin C, Sinaii N, et al. A pharmacokinetic and pharmacodynamic study of delayed- and extended-release hydrocortisone (Chronocort) vs. conventional hydrocortisone (Cortef) in the treatment of congenital adrenal hyperplasia. Clin Endocrinol (Oxf). 2010;72:441-447.
25. Krone N, Hughes BA, Lavery GG, Stewart PM, Arlt W, Shackleton CH. 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). J Steroid Biochem Mol Biol. 2010;121:496-504.
26. Crocker MK, Barak S, Millo CM, et al. Use of PET/CT with cosyntropin stimulation to identify and localize adrenal rest tissue following adrenalectomy in a woman with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2012;97:E2084-E2089.
27. Reisch N, Scherr M, Flade L, et al. Total adrenal volume but not testicular adrenal rest tumor volume is associated with hormonal control in patients with 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2010;95:2065-2072.
28. Nermoen I, Rorvik J, Holmedal SH, et al. High frequency of adrenal myelolipomas and testicular adrenal rest tumours in adult Norwegian patients with classical congenital adrenal hyperplasia because of 21-hydroxylase deficiency. Clin Endocrinol (Oxf). 2011;75:753-759.
29. Casteràs A, De Silva P, Rumsby G, Conway GS. Reassessing fecundity in women with classical congenital adrenal hyperplasia (CAH): normal pregnancy rate but reduced fertility rate. Clin Endocrinol (Oxf). 2009;70:833-837.
30. Casey ML, MacDonald PC. Extra-adrenal formation of a mineralocorticoid: Deoxycorticosterone and deoxycorticosterone sulfate biosynthesis and metabolism. Endocr Rev. 1982;3:396-403.
31. Gomes LG, Huang N, Agrawal V, Mendonça BB, Bachega TA, Miller WL. Extraadrenal 21-hydroxylation by CYP2C19 and CYP3A4: effect on 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2009;94:89-95.
32. DeVore NM, Scott EE. Structures of cytochrome P450 17A1 with prostate cancer drugs abiraterone and TOK-001. Nature. 2012;482: 116-119.
33. Garrido M, Peng HM, Yoshimoto FK, Upadhyay SK, Bratoeff E, Auchus RJ. A-Ring modified steroidal azoles retain similar potent and slowly reversible CYP17A1 inhibition as abiraterone. J Steroid Biochem Mol Biol. 2014;143C:1-10.
34. Auchus RJ, Arlt W. Approach to the patient: the adult with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2013;98: 2645-2655.
35. Callies F, Arlt W, Siekmann L, Hubler D, Bidlingmaier F, Allolio B. Influence of oral dehydroepiandrosterone (DHEA) on urinary steroid metabolites in males and females. Steroids. 2000;65:98-102.
36. Kamrath C, Hochberg Z, Hartmann MF, Remer T, Wudy SA. Increased activation of the alternative "backdoor" pathway in patients with 21-hydroxylase deficiency: evidence from urinary steroid hormone analysis. J Clin Endocrinol Metab. 2012;97:E367-E375.
37. Wilson JD, Auchus RJ, Leihy MW, et al. 5-Androstane-3-, 17- diol is formed in tammar wallaby pouch young testes by a pathway involving 5-pregnane-3-, 17-diol-20-one as a key intermediate. Endocrinology. 2003;144:575-580.
38. Auchus RJ. The backdoor pathway to dihydrotestosterone. Trends Endocrinol Metab. 2004;15:432-438.