Figura 48 ± Heredograma da família 12, paciente 18
8 REFERÊNCIAS
1. Miller WL. Minireview: regulation of steroidogenesis by electron transfer. Endocrinology. 2005;146(6):2544-50.
2. Lin D, Harikrishna JA, Moore CC, Jones KL, Miller WL. Missense mutation serine106----proline causes 17 alpha-hydroxylase deficiency. J Biol Chem. 1991;266(24):15992-8.
3. Biglieri EG, Herron MA, Brust N. 17-Hydroxylation deficiency in man. J Clin Invest. 1966;45(1):1946-54.
4. Auchus RJ. The genetics, pathophysiologx, and management of human deficiencies of P450c17. Endocrinol Metabol Clin North Am. 2001;30(1):101-19.
5. Yanase T. Į-hydroxylase/17,20-lyase defects. J Steroid Biochem Mol Biol. 1995;53(1±6):153-7.
6. Yanase T, Simpson ER, Watwrman MR. 17Alpha-hydroxylase/17,20- lyase deficiency: from clinical investigation to molecular definition. Endocr Rev. 1991;12(1): 91-108.
7. Chung BC, Picado-Leonard J, Haniu M, Bienkowski M, Hall PF, Shively JE, Miller Wl. Cytochrome P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): cloning of human adrenal and testis cdnas indicates the same gene is expressed in both tissues. Proc Natl Acad Sci U S A. 1987;84(2):407-11.
8. Schonemann MD, Muench MO, Tee MK, Miller WL, Mellon SH. Expression of P450c17 in the human fetal nervous system. Endocrinology, 2012;153(5):2494-505.
9. Nakajin S, Shively JE, Yuan PM, Hall PT. Microsomal cytochrome P-450 from neonatal pig testis: two enzymic activities (17.alpha.-hydroxalase and C17,20 associated with one protein. Biochemistry. 1981;20(14):4037-42.
10. Picado-Leonard J, Miller WL. Cloning and sequence of the human gene for P450c17 (steroid 17-hydroxylase/17,20 lyase): similarity with the gene for P450c21. DNA. 1987;6(5):439-48.
11. Belgini DRB, Mello MP, Baptista MT, Oliveira DM, Denardi FC, Garmes HM, Grassiotto Oda R, Benetti Pinto CL, Marques-De-Faria AP, Maciel- Guerra AT, Guerra-Júnior G. Six new cases confirm the clinical molecular profile of complete combined 17±-hydroxylase/ 17,20-lyase deficiency in Brazil. Arq Bras Endocrinol Metabol. 2010;54:711-6.
12. 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 Metabol. 2004;89(1):49-60.
13. Martin RM, Lin CJ, Costa EM, De Oliveira ML, Carrilho A, Villar H, Longui CA, Mendonca BB. P450c17 deficiency in brazilian patients: biochemical diagnosis through progesterone levels confirmed by cyp17 genotyping. J Clin Endocrinol Metabol. 2003;88(12):5739-46.
14. Martin RM, Oliveira PSL, Costa EMF, Arnhold IJP, Mendonça BB. Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a homozygous 25 Bp duplication (Nt 4157-4181) at exon 5 in the cyp17 resulting in a premature stop codon predicted by molecular modeling. Arq Bras Endocrinol Metabol. 2008;52:1317-20.
15. Miller WL, Auchus RJ. The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders. Endocr Rev. 2011;32(1):81-151.
16. Tian Q, Zhang Y, Lu Z, Partial 17alpha-hydroxylase/17,20-lyase deficiency-clinical report of five Chinese 46,Xx cases. Gynecol Endocrinol. 2008;24(7):362-7.
17. Yang J, Cui B, Sun S, Shi T, Zheng S, Bi Y, Liu J, Zhao Y, Chen J, Ning G, Li X. Phenotype-genotype correlation in eight CKLQHVH Į- hydroxylase/17,20 lyase-deficiency patients with five novel mutations of cyp17a1 gene. J Clin Endocrinol Metabol. 2006;91(9):3619-25.
18. Pandey AV, Miller WL. Regulation of 17,20 lyase activity by cytochrome B5 and by serine phosphorylation of P450c17. J Biol Chem. 2005;280(14):13265-71.
19. Miller WL, Pandey AV, Flück CE, Agrawal V. P450 oxidoreductase deficiency: a new disorder of steroidogenesis. Ann N Y Acad Sci. 2005;1061: 100-8.
20. Krone N, Arlt W. Genetics of congenital adrenal hyperplasia. Best Prac Res Clin Endocrinol Metabol. 2009;23(2):181-92.
21. Miller WL, Agrawal V, Sandee D, Tee MK, Huang N, Choi JH, Morrissey K, Giacomini KM. Consequences of por mutations and polymorphisms. Mol Cell Endocrinol. 2011;336(1±2):174-9.
22. Auchus RJ, Lee TC, Miller WL. Cytochrome B5 augments the 17,20- lyase activity of human p450c17 without direct electron transfer. J Biol Chem. 1998;273(6):3158-65.
23. Lee-Robichaud P, Shyadehi AZ, Wright JN, Akhtar ME, Akhtar M. Mechanistic Kinship between hydroxylation and desaturation reactions: acyl-carbon bond cleavage promoted by pig and human cyp17 (p- 450(17)alpha; 17 alpha-hydroxylase-17,20-lyase). Biochemistry. 1995;34(43):14104-13.
24. Hackett CS, Strittmatter P. Covalent cross-linking of the active sites of vesicle-bound cytochrome B5 and nadh-cytochrome B5 reductase. J Biol Chem. 1984;259(5):3275-82.
25. Miller WL. The syndrome of 17,20 lyase deficiency. J Clin Endocrinol Metab. 2012;97(1):59-67.
26. Kagimoto M, Winter JS, Kagimoto K, Simpson ER, Waterman MR. Structural FKDUDFWHUL]DWLRQ RI QRUPDO DQG PXWDQW KXPDQ VWHURLG Į- K\GUR[\ODVH JHQHV PROHFXODU EDVLV RI RQH H[DPSOH RI FRPELQHG Į- hydroxylase/17,20 lyase deficiency. Mol Endocrinol, 1988;2(6):564-70. 27. Monte O, Caliari LE, Kochi C, Longui CA. Síndromes de hipertensão
mineralocorticóide. In: Calliari LE, Kochi C, Longui CA, Monte O. Endocrinologia para o pediatra. 3 Ed. 2009, São Paulo: Atheneu.
28. Antley RM, Uga N, Burzynski Nj, Baum Rs, Bixler D. Diagnostic criteria for the whistling face syndrome. Birth Defects Orig Artic Ser. 1975;11(5):161-8.
29. Idkowiak J, O'Riordan S, Reisch N, Malunowicz EM, Collins F, Kerstens MN, Köhler B, Graul-Neumann LM, Szarras-Czapnik M, Dattani M, Silink M, Shackleton CH, Maiter D, Krone N, Arlt W. Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency. J Clin Endocrinol Metabol. 2011;96(3):E453- 62.
30. Bradley JP, Longaker MT, Habal MB. The IXth International Congress, International Society Of Craniofacial Surgery, Visby, Gotland, Sweden, June 2001. J Craniofac Surg. 2002.13(1):124-6.
31. Ten Kate-Booij MJ, Cobbaert C, Koper JW, De Jong FH. Deficiency of 17,20lyase causing giant ovarian cysts in a girl and a female phenotype in her 46,Xy Sister: case report. Human Reprod, 2004;19(2):456-9.
32. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16(3):1215.
33. Rosa S, Duff C, Meyer M, Lang-Muritano M, Balercia G, Boscaro M, Topaloglu AK, Mioni R, Fallo F, Zuliani L, Mantero F, Schoenle EJ, Biason-Lauber A. P450c17 deficiency: clinical and molecular characterization of six patients. J Clin Endocrinol Metab. 2007;92(3):1000-7.
34. Sahakitrungruang T, Huang N, Tee MK, Agrawal V, Russell WE, Crock P, Murphy N, Migeon CJ, Miller WL. Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients. J Clin Endocrinol Metab. 2009;94(12):4992-5000.
35. Tian Q, Zhang Y, Lu Z. Molecular study of five chinese patients with 46xx partial 17a-hydroxylase/17,20-lyase deficiency. Gynecol Endocrinol. 2012;28(3):234-8.
36. Marsh CA, Auchus RJ. Fertility In patients with genetic deficiencies of cytochrome P450c17 (Cyp17a1): combined 17-hydroxylase/17,20-lyase deficiency and isolated 17,20-lyase deficiency. Fertil Steril. 2014.101(2):317-22.
37. Wang J, Bissada MA, Williamson HO, Yakout H, Bissada NK. Adrenal tumors associated with inadequately treated congenital adrenal hyperplasia. Can J Urol. 2002;9(3):1563-4.
38. Huang N, Pandey AV, Agrawal V, Reardon W, Lapunzina PD, Mowat D, Jabs EW, Van Vliet G, Sack J, Flück CE, Miller WL. Diversity and function of mutations in P450 oxidoreductase in patients with antley- bixler syndrome and disordered steroidogenesis. Am J Hum Genet. 2005;76(5):729-49.
39. Gröndahl C, Hansen TH, Marky-Nielsen K, Ottesen JL, Hyttel P. Human oocyte maturation in vitro is stimulated by meiosis-activating sterol. Human Reproduction. 2000;15(Suppl 5): 3-10.
40. Wang C, Xu B, Zhou B, Zhang C, Yang J, Ouyang H, Ning G, Zhang M, Shen J, Xia G. Reducing Cyp51 inhibits follicle-stimulating hormone induced resumption of mouse oocyte meiosis in vitro. J Lipid Res. 2009;50(11):2164-72.
41. Rossmanith WG. Ultradian and circadian patterns in luteinizing hormone secretion during reproductive life in women. Hum Reprod. 1993;8(Suppl 2):77-83.