References
- Lieberman S, Warne PA. 17-Hydroxylase: an evaluation of the present view of its catalytic role in steroidogenesis. J Steroid Biochem Mol Biol 2001;78:299–312.
- Lee ES, Kim M, Moon S, et al. A new compound heterozygous mutation in the CYP17A1 gene in a female with 17α-hydroxylase/17,20-lyase deficiency. Gynecol Endocrinol 2013;29:720–3.
- Costa-Santos M, Kater CE, Dias EP, et al. Two intronic mutations cause 17-hydroxylase deficiency by disrupting splice acceptor sites: direct demonstration of aberrant splicing and absent enzyme activity by expression of the entire CYP17 gene in HEK-293 cells. J Clin Endocrinol Metab 2004;89:43–8.
- Biglieri EG, Herron MA, Brust N. 17-Hydroxylation deficiency in man. J Clin Invest 1966;45:1946–54.
- Geller DH, Auchus RJ, Mendonça BB, et al. The genetic and functional basis of isolated 17,20-lyase deficiency. Nat Genet 1997;17:201–5.
- Biason-Lauber A, Leiberman E, Zachmann M. A single amino acid substitution in the putative redox partner-binding site of P450c17 as cause of isolated 17,20-lyase deficiency. J Clin Endocrinol Metab 1997;82:3807–12.
- Yanase T, Kagimoto M, Suzuki S, et al. Deletion of a phenylalanine in the N-terminal region of human cytochrome P-450(17 alpha) results in partial combined 17 alpha-hydroxylase/17,20-lyase deficiency. J Biol Chem 1989;264:18076–82.
- Biason A, Mantero F, Scaroni C, et al. Deletion within the CYP17 gene together with insertion of foreign DNA is the cause of combined complete 17 alpha-hydroxylase/17,20-lyase deficiency in an Italian patient. Mol Endocrinol 1991;5:2037–45.
- Oshiro C, Takasu N, Wakugami T, et al. Seventeen alpha-hydroxylase deficiency with one base pair deletion of the cytochrome P450c17 (CYP17) gene. J Clin Endocrinol Metab 1995;80:2526–9.
- Turkkahraman D, Guran T, Ivison H, et al. Identification of a novel large CYP17A1 deletion by MLPA analysis in a family with classic 17α-hydroxylase deficiency. Sex Dev 2015;9:91–7.
- Sequence Variant Nomenclature. http://varnomen.hgvs.org [last accessed March 2017].
- DeVore NM, Scott EE. Structures of cytochrome P450 17A1 with prostate cancer drugs abiraterone and TOK-001. Nature 2012;482:116–19.
- Kelley LA, Mezulis S, Yates CM, et al. The Phyre2 web portal for protein modeling, prediction and analysis. Nat Protoc 2015;10:845–58.
- Ghayee HK, Rege J, Watumull LM, et al. Clinical, biochemical, and molecular characterization of macronodular adrenocortical hyperplasia of the zona reticularis: a new syndrome. J Clin Endocrinol Metab 2011;96:E243–50.
- Auchus RJ, Miller WL. Molecular modeling of human P450c17 (17alpha-hydroxylase/17,20-lyase): insights into reaction mechanisms and effects of mutations. Mol Endocrinol 1999;13:1169–82.
- Tiosano D, Knopf C, Koren I, et al. Metabolic evidence for impaired 17alpha-hydroxylase activity in a kindred bearing the E305G mutation for isolate 17,20-lyase activity. Eur J Endocrinol 2008;158:385–92.
- 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;273:3158–65.
- Rosa S, Duff C, Meyer M, et al. P450c17 deficiency: clinical and molecular characterization of six patients. J Clin Endocrinol Metab 2007;92:1000–7.
- Nozu K, Dufau ML, Catt KJ. Estradiol receptor-mediated regulation of steroidogenesis in gonadotropin-desensitized Leydig cells. J Biol Chem 1981;256:1915–22.
- Johnson DC, Martin H, Tsai-Morris CH. The in vitro and in vivo effect of estradiol upon the 17alpha-hydroxylase and C17,20-lyase activity in the ovaries of immature hypophysectomized rats. Mol Cell Endocrinol 1984;35:199–204.
- Slater CC, Zhang C, Hodis HN, et al. Comparison of estrogen and androgen levels after oral estrogen replacement therapy. J Reprod Med 2001;46:1052–6.