Congenital adrenal hyperplasia - More dogma bites the dust

Journal of Clinical Endocrinology and Metabolism

Volumn 97, Issue 3, 2012, Pages 772-775

  Auchus, Richard J ^a   Miller, Walter L ^b  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN; ANDROSTANOLONE; CYTOCHROME P450; STEROID 21 MONOOXYGENASE;

ANDROGEN SYNTHESIS; CONGENITAL ADRENAL HYPERPLASIA; EDITORIAL; ENZYME ASSAY; HORMONE SYNTHESIS; HUMAN; MASS FRAGMENTOGRAPHY; MASS SPECTROMETRY; MOLECULAR CLONING; NONHUMAN; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; STEROID ANALYSIS;

ADRENAL HYPERPLASIA, CONGENITAL; FEMALE; GONADAL STEROID HORMONES; HUMANS; MALE;

EID: 84858034097     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2012-1080     Document Type: Editorial

References (20)

1. Bongiovanni AM, Root AW 1963 The adrenogenital syndrome. N Engl J Med 268:1283-1289, 1342-1351, 1391-1399 (in three parts)
2. Tait JF, Little B, Tait SA, Riondel A, Flood C, Joachim E, Gut M 1965 Isotopic methods for steroids in human blood. Adv Tracer Methodol 2:227-235
3. Cooper DY, Levin S, Narasimhulu S, Rosenthal O, Estabrook RW 1965 Photochemical action spectrum of the terminal oxidase of mixed function oxidase systems. Science 147:400-402
4. Miller WL 1988 Molecular biology of steroid hormone synthesis. Endocr Rev 9:295-318
5. Miller WL, Auchus RJ 2011 The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders. Endocr Rev 32:81-151
6. McDonald JG, Matthew S, Auchus RJ 2011 Steroid profiling by gas chromatography-mass spectrometry and high performance liquid chromatography-mass spectrometry for adrenal diseases. Horm Cancer 2:324-332
7. Kamrath C, Hochberg Z, Hartmann MF, Remer T, Wudy SA 2012 Increased activation of the alternative "backdoor" pathway in patients with 21-hydroxylase deficiency: evidence from urinary steroid hormone analysis. J Clin Endocrinol Metab 97:E367-E375
8. Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP, Meyer-Bahlburg HF, Miller WL, Montori VM, Oberfield SE, Ritzen M, White PC 2010 Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 95:4133-4160
9. 5-steroid-17,20-lyase reactions. Mol Endocrinol 3:968-975
10. 5 augments the 17,20 lyase activity of human P450c17 without direct electron transfer. J Biol Chem 273:3158-3165
11. Goto M, Hanley KP, Marcos J, Wood PJ, Wright S, Postle AD, Cameron IT, Mason JI, Wilson DI, Hanley NA 2006 In humans, early cortisol biosynthesis provides a mechanism to safeguard female sexual development. J Clin Invest 116:953-960
12. Nakamura Y, Hornsby PJ, Casson P, Morimoto R, Satoh F, Xing Y, Kennedy MR, Sasano H, Rainey WE 2009 Type 5 17β-hydroxysteroid dehydrogenase (AKR1C3) contributes to testosterone production in the adrenal reticularis. J Clin Endocrinol Metab 94:2192-2198
13. Wilson JD, Auchus RJ, Leihy MW, Guryev OL, Estabrook RW, Osborn SM, Shaw G, Renfree MB 2003 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 144:575-580 (Pubitemid 36205230)
14. Auchus RJ 2004 The backdoor pathway to dihydrotestosterone. Trends Endocrinol Metab 15:432-438 (Pubitemid 39440726)
15. 21 steroids are substrates for human cytochrome P450c17. Arch Biochem Biophys 418:151-160
16. Flück CE, Tajima T, Pandey AV, Arlt W, Okuhara K, Verge CF, Jabs EW, Mendonça BB, Fujieda K, Miller WL 2004 Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet 36:228-230 (Pubitemid 38282745)
17. Homma K, Hasegawa T, Nagai T, Adachi M, Horikawa R, Fujiwara I, Tajima T, Takeda R, Fukami M, Ogata T 2006 Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosterone. J Clin Endocrinol Metab 91:2643-2649 (Pubitemid 44024631)
18. Shackleton, C, Marcos, J, Arlt, W, and Hauffa, BP 2004 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 A 129: 105-112 (Pubitemid 39121274)
19. Arlt W, Walker EA, Draper N, Ivison HE, Ride JP, Hammer F, Chalder SM, Borucka-Mankiewicz M, Hauffa BP, Malunowicz EM, Stewart PM, Shackleton CH 2004 Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study. Lancet 363:2128-2135 (Pubitemid 38844154)
20. Flück CE, Meyer-Böni M, Pandey AV, Kempná P, Miller WL, Schoenle EJ, Biason-Lauber A 2011 Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation. Am J Hum Genet 89:201-218