{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T01:00:40Z","timestamp":1789693240040,"version":"4.0.1"},"reference-count":111,"publisher":"Springer Science and Business Media LLC","issue":"10","license":[{"start":{"date-parts":[[2010,2,24]],"date-time":"2010-02-24T00:00:00Z","timestamp":1266969600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Endocrinol Invest"],"published-print":{"date-parts":[[2010,11]]},"DOI":"10.1007\/bf03346683","type":"journal-article","created":{"date-parts":[[2014,3,27]],"date-time":"2014-03-27T09:20:46Z","timestamp":1395912046000},"page":"756-766","source":"Crossref","is-referenced-by-count":20,"title":["Defects of steroidogenesis"],"prefix":"10.1007","volume":"33","author":[{"given":"A.","family":"Biason-Lauber","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Boscaro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Mantero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Balercia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2010,2,24]]},"reference":[{"key":"BF03346683_CR1","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1136\/adc.2006.098319","volume":"91","author":"IA Hughes","year":"2006","unstructured":"Hughes IA, Houk C, Ahmed SF, Lee PA. Consensus statement on management of intersex disorders. Arch Dis Child 2006, 91: 554\u201363.","journal-title":"Arch Dis Child"},{"key":"BF03346683_CR2","first-page":"397","volume":"10","author":"A Prader","year":"1955","unstructured":"Prader A, Gurtner HP. Das Syndrom des Pseudohermaphroditismus masculinus bei kongenitaler Nebennierenrindenhyperplasie ohne Androgen\u00fcberproduktion. Helv Paediatr Acta 1955, 10: 397\u2013412.","journal-title":"Helv Paediatr Acta"},{"key":"BF03346683_CR3","doi-asserted-by":"crossref","first-page":"1828","DOI":"10.1126\/science.7892608","volume":"267","author":"D Lin","year":"1995","unstructured":"Lin D, Sugawara T, Strauss JF 3rd, et al. Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis. Science 1995, 267: 1828\u201331.","journal-title":"Science"},{"key":"BF03346683_CR4","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1210\/jc.2007-2330","volume":"93","author":"CJ Kim","year":"2008","unstructured":"Kim CJ, Lin L, Huang N, et al. Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc. J Clin Endocrinol Metab 2008, 93: 696\u2013702.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03346683_CR5","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1210\/jcem-47-5-944","volume":"47","author":"D Apter","year":"1978","unstructured":"Apter D, Viinikka L, Vihko R. Hormonal pattern of adolescent menstrual cycles. J Clin Endocrinol Metab 1978, 47: 944\u201354.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03346683_CR6","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1210\/jcem-59-3-551","volume":"59","author":"N Orentreich","year":"1984","unstructured":"Orentreich N, Brind JL, Rizer RL, Vogelman JH. Age changes and sex differences in serum dehydroepiandrosterone sulfate concentrations throughout adulthood. J Clin Endocrinol Metab 1984, 59: 551\u20135.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03346683_CR7","first-page":"614","volume":"80","author":"E Oppenheimer","year":"1995","unstructured":"Oppenheimer E, Linder B, DiMartino-Nardi J. Decreased insulin sensitivity in prepubertal girls with premature adrenarche and acanthosis nigricans. J Clin Endocrinol Metab 1995, 80: 614\u20138.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03346683_CR8","doi-asserted-by":"crossref","first-page":"4739","DOI":"10.1210\/jcem.84.12.6341","volume":"84","author":"L Ibanez","year":"1999","unstructured":"Ibanez L, Potau N, Marcos MV, de Zegher F. Exaggerated adrenarche and hyperinsulinism in adolescent girls born small for gestational age. J Clin Endocrinol Metab 1999, 84: 4739\u201341.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03346683_CR9","doi-asserted-by":"crossref","first-page":"2112","DOI":"10.1210\/endo-103-6-2112","volume":"103","author":"GB Cutler Jr","year":"1978","unstructured":"Cutler GB Jr, Glenn M, Bush M, Hodgen GD, Graham CE, Loriaux DL. Adrenarche: a survey of rodents, domestic animals, and primates. Endocrinology 1978, 103: 2112\u20138.","journal-title":"Endocrinology"},{"key":"BF03346683_CR10","doi-asserted-by":"crossref","first-page":"844","DOI":"10.1210\/endo-111-3-844","volume":"111","author":"PJ Smail","year":"1982","unstructured":"Smail PJ, Faiman C, Hobson WC, Fuller GB, Winter JS. Further studies on adrenarche in nonhuman primates. Endocrinology 1982, 111: 844\u20138.","journal-title":"Endocrinology"},{"key":"BF03346683_CR11","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1073\/pnas.84.2.407","volume":"84","author":"BC Chung","year":"1987","unstructured":"Chung BC, Picado-Leonard J, Haniu M, et al. 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: 407\u201311.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"BF03346683_CR12","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1089\/dna.1987.6.439","volume":"6","author":"J Picado-Leonard","year":"1987","unstructured":"Picado-Leonard J, Miller WL. Cloning and sequence of the human gene for P450c17 (steroid 17 alpha-hydroxylase\/17,20 lyase): similarity with the gene for P450c21. DNA 1987, 6: 439\u201348.","journal-title":"DNA"},{"key":"BF03346683_CR13","doi-asserted-by":"crossref","first-page":"3158","DOI":"10.1074\/jbc.273.6.3158","volume":"273","author":"RJ Auchus","year":"1998","unstructured":"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\u201365.","journal-title":"J Biol Chem"},{"key":"BF03346683_CR14","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1248\/yakushi1947.103.8_895","volume":"103","author":"S Nakajin","year":"1983","unstructured":"Nakajin S, Kobune S, Shinoda M. [Carbon monoxide inhibition of 21-hydroxylase and 17 alpha-hydroxylase activities in porcine adrenal microsomes]. Yakugaku Zasshi 1983, 103: 895\u20138.","journal-title":"Yakugaku Zasshi"},{"key":"BF03346683_CR15","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1210\/mend.13.1.0219","volume":"13","author":"DH Geller","year":"1999","unstructured":"Geller DH, Auchus RJ, Miller WL. P450c17 mutations R347H and R358Q selectively disrupt 17,20-lyase activity by disrupting interactions with P450 oxidoreductase and cytochrome b5. Mol Endocrinol 1999, 13: 167\u201375.","journal-title":"Mol Endocrinol"},{"key":"BF03346683_CR16","doi-asserted-by":"crossref","first-page":"10619","DOI":"10.1073\/pnas.92.23.10619","volume":"92","author":"LH Zhang","year":"1995","unstructured":"Zhang LH, Rodriguez H, Ohno S, Miller WL. Serine phosphorylation of human P450c17 increases 17,20-lyase activity: implications for adrenarche and the polycystic ovary syndrome. Proc Natl Acad Sci U S A 1995, 92: 10619\u201323.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"BF03346683_CR17","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1210\/jc.2003-031770","volume":"89","author":"WL Miller","year":"2004","unstructured":"Miller WL. Steroid 17alpha-hydroxylase deficiency\u2014not rare everywhere. J Clin Endocrinol Metab 2004, 89: 40\u20132.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03346683_CR18","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1007\/s11154-008-9102-4","volume":"10","author":"WL Miller","year":"2009","unstructured":"Miller WL. Androgen synthesis in adrenarche. Rev Endocr Metab Disord 2009, 10: 3\u201317.","journal-title":"Rev Endocr Metab Disord"},{"key":"BF03346683_CR19","doi-asserted-by":"crossref","first-page":"1144","DOI":"10.1210\/me.2003-0342","volume":"18","author":"CE Fluck","year":"2004","unstructured":"Fluck CE, Miller WL. GATA-4 and GATA-6 modulate tissue-specific transcription of the human gene for P450c17 by direct interaction with Sp1. Mol Endocrinol 2004, 18: 1144\u201357.","journal-title":"Mol Endocrinol"},{"key":"BF03346683_CR20","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1038\/ng1097-201","volume":"17","author":"DH Geller","year":"1997","unstructured":"Geller DH, Auchus RJ, Mendonca BB, Miller WL. The genetic and functional basis of isolated 17,20-lyase deficiency. Nat Genet 1997, 17: 201\u20135.","journal-title":"Nat Genet"},{"key":"BF03346683_CR21","first-page":"1226","volume":"85","author":"A Biason-Lauber","year":"2000","unstructured":"Biason-Lauber A, Kempken B, Werder E, et al. 17alpha-hydroxylase\/17,20-lyase deficiency as a model to study enzymatic activity regulation: role of phosphorylation. J Clin Endocrinol Metab 2000, 85: 1226\u201331.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03346683_CR22","doi-asserted-by":"crossref","first-page":"2037","DOI":"10.1210\/mend-5-12-2037","volume":"5","author":"A Biason","year":"1991","unstructured":"Biason A, Mantero F, Scaroni C, Simpson ER, Waterman MR. 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\u201345.","journal-title":"Mol Endocrinol"},{"key":"BF03346683_CR23","first-page":"3807","volume":"82","author":"A Biason-Lauber","year":"1997","unstructured":"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\u201312.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03346683_CR24","doi-asserted-by":"crossref","first-page":"1946","DOI":"10.1172\/JCI105499","volume":"45","author":"EG Biglieri","year":"1966","unstructured":"Biglieri EG, Herron MA, Brust N. 17-hydroxylation deficiency in man. J Clin Invest 1966, 45: 1946\u201354.","journal-title":"J Clin Invest"},{"key":"BF03346683_CR25","first-page":"898","volume":"87","author":"C A Di","year":"2002","unstructured":"Di Cerbo A, Biason-Lauber A, Savino M, et al. Combined 17alpha-Hydroxylase\/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene. J Clin Endocrinol Metab 2002, 87: 898\u2013905.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03346683_CR26","doi-asserted-by":"crossref","first-page":"2498","DOI":"10.1210\/endo.132.6.8504753","volume":"132","author":"D Lin","year":"1993","unstructured":"Lin D, Black SM, Nagahama Y, Miller WL. Steroid 17 alpha-hydroxylase and 17,20-lyase activities of P450c17: contributions of serine 106 and P450 reductase. Endocrinology 1993, 132: 2498\u2013506.","journal-title":"Endocrinology"},{"key":"BF03346683_CR27","doi-asserted-by":"crossref","first-page":"1000","DOI":"10.1210\/jc.2006-1486","volume":"92","author":"S Rosa","year":"2007","unstructured":"Rosa S, Duff C, Meyer M, et al. P450c17 deficiency: clinical and molecular characterization of six patients. J Clin Endocrinol Metab 2007, 92: 1000\u20137.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03346683_CR28","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1210\/jc.2003-031021","volume":"89","author":"M Costa-Santos","year":"2004","unstructured":"Costa-Santos M, Kater CE, Auchus RJ; Brazilian Congenital Adrenal Hyperplasia Multicenter Study Group. Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency. J Clin Endocrinol Metab 2004, 89: 49\u201360.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03346683_CR29","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1210\/edrv-12-1-91","volume":"12","author":"T Yanase","year":"1991","unstructured":"Yanase T, Simpson ER, Waterman MR. 17 alpha-hydroxylase\/17,20-lyase deficiency: from clinical investigation to molecular definition. Endocr Rev 1991, 12: 91\u2013108.","journal-title":"Endocr Rev"},{"key":"BF03346683_CR30","doi-asserted-by":"crossref","first-page":"5739","DOI":"10.1210\/jc.2003-030988","volume":"88","author":"RM Martin","year":"2003","unstructured":"Martin RM, Lin CJ, Costa EM, et al. P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping. J Clin Endocrinol Metab 2003, 88: 5739\u201346.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03346683_CR31","doi-asserted-by":"crossref","first-page":"2508","DOI":"10.1210\/jc.2004-2067","volume":"90","author":"M Taniyama","year":"2005","unstructured":"Taniyama M, Tanabe M, Saito H, Ban Y, Nawata H, Yanase T. Subtle 17alpha-hydroxylase\/17,20-lyase deficiency with homozygous Y201 N mutation in an infertile woman. J Clin Endocrinol Metab 2005, 90: 2508\u201311.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03346683_CR32","first-page":"1169","volume":"13","author":"RJ Auchus","year":"1999","unstructured":"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\u201382.","journal-title":"Mol Endocrinol"},{"key":"BF03346683_CR33","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1530\/acta.0.1270097","volume":"127","author":"M Zachmann","year":"1992","unstructured":"Zachmann M, Kempken B, Manella B, Navarro E. Conversion from pure 17,20-desmolase-to combined 17,20-desmolase\/17 alpha-hydroxylase deficiency with age. Acta Endocrinol (Copenh) 1992, 127: 97\u20139.","journal-title":"Acta Endocrinol"},{"key":"BF03346683_CR34","doi-asserted-by":"crossref","first-page":"2319","DOI":"10.1210\/jc.2003-031728","volume":"89","author":"CE Wood","year":"2004","unstructured":"Wood CE, Cline JM, Anthony MS, Register TC, Kaplan JR. Adrenocortical effects of oral estrogens and soy isoflavones in female monkeys. J Clin Endocrinol Metab 2004, 89: 2319\u201325.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03346683_CR35","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/0002-9378(87)90238-9","volume":"156","author":"C Jung-Hoffmann","year":"1987","unstructured":"Jung-Hoffmann C, Kuhl H. Divergent effects of two low-dose oral contraceptives on sex hormone-binding globulin and free testosterone. Am J Obstet Gynecol 1987, 156: 199\u2013203.","journal-title":"Am J Obstet Gynecol"},{"key":"BF03346683_CR36","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/S0015-0282(16)53212-9","volume":"53","author":"A Murphy","year":"1990","unstructured":"Murphy A, Cropp CS, Smith BS, Burkman RT, Zacur HA. Effect of low-dose oral contraceptive on gonadotropins, androgens, and sex hormone binding globulin in nonhirsute women. Fertil Steril 1990, 53: 35\u20139.","journal-title":"Fertil Steril"},{"key":"BF03346683_CR37","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/S0010-7824(95)00137-9","volume":"52","author":"D Moutos","year":"1995","unstructured":"Moutos D, Smith S, Zacur H. The effect of monophasic combinations of ethinyl estradiol and norethindrone on gonadotropins, androgens and sex hormone binding globulin: a randomized trial. Contraception 1995, 52: 105\u20139.","journal-title":"Contraception"},{"key":"BF03346683_CR38","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1016\/S0015-0282(00)01768-4","volume":"75","author":"M D\u00f6ren","year":"2001","unstructured":"D\u00f6ren M, R\u00fcbig A, Coelingh Bennink HJ, Holzgreve W. Differential effects on the androgen status of postmenopausal women treated with tibolone and continuous combined estradiol and norethindrone acetate replacement therapy. Fertil Steril 2001, 75: 554\u20139.","journal-title":"Fertil Steril"},{"key":"BF03346683_CR39","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1097\/00005792-199201000-00004","volume":"71","author":"S Tazuke","year":"1992","unstructured":"Tazuke S, Khaw KT, Barrett-Connor E. Exogenous estrogen and endogenous sex hormones. Medicine (Baltimore) 1992, 71: 44\u201351.","journal-title":"Medicine (Baltimore)"},{"key":"BF03346683_CR40","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1016\/S0029-7844(97)00538-3","volume":"90","author":"PR Casson","year":"1997","unstructured":"Casson PR, Elkind-Hirsch KE, Buster JE, Hornsby PJ, Carson SA, Snabes MC. Effect of postmenopausal estrogen replacement on circulating androgens. Obstet Gynecol 1997, 90: 995\u20138.","journal-title":"Obstet Gynecol"},{"key":"BF03346683_CR41","first-page":"1052","volume":"46","author":"CC Slater","year":"2001","unstructured":"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\u20136.","journal-title":"J Reprod Med"},{"key":"BF03346683_CR42","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1053\/meta.2001.21036","volume":"50","author":"RR Kraemer","year":"2001","unstructured":"Kraemer RR, Synovitz LB, Gimpel T, Kraemer GR, Johnson LG, Castracane VD. Effect of estrogen on serum DHEAin younger and older women and the relationship of DHEA to adiposity and gender. Metabolism 2001, 50: 488\u201393.","journal-title":"Metabolism"},{"key":"BF03346683_CR43","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1093\/humrep\/deh065","volume":"19","author":"MJ Kate-Booij ten","year":"2004","unstructured":"ten Kate-Booij MJ, Cobbaert C, Koper JW, de Jong FH. Deficiency of 17,20-lyase causing giant ovarian cysts in a girl and a female phenotype in her 46,XY sister: case report. Hum Reprod 2004, 19: 456\u20139.","journal-title":"Hum Reprod"},{"key":"BF03346683_CR44","doi-asserted-by":"crossref","first-page":"4179","DOI":"10.1210\/jc.2006-0469","volume":"91","author":"B Ergun-Longmire","year":"2006","unstructured":"Ergun-Longmire B, Auchus R, Papari-Zareei M, Tansil S, Wilson RC, New MI. Two novel mutations found in a patient with 17alpha-hydroxylase enzyme deficiency. J Clin Endocrinol Metab 2006, 91: 4179\u201382.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03346683_CR45","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1056\/NEJM198603203141206","volume":"314","author":"E Hegesh","year":"1986","unstructured":"Hegesh E, Hegesh J, Kaftory A. Congenital methemoglobinemia with a deficiency of cytochrome b5. N Engl J Med 1986, 314: 757\u201361.","journal-title":"N Engl J Med"},{"key":"BF03346683_CR46","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1007\/BF00202825","volume":"93","author":"SJ Giordano","year":"1994","unstructured":"Giordano SJ, Kaftory A, Steggles AW. A splicing mutation in the cytochrome b5 gene from a patient with congenital methemoglobinemia and pseudohermaphrodism. Hum Genet 1994, 93: 568\u201370.","journal-title":"Hum Genet"},{"key":"BF03346683_CR47","doi-asserted-by":"crossref","first-page":"2086","DOI":"10.1172\/JCI104666","volume":"41","author":"AM Bongiovanni","year":"1962","unstructured":"Bongiovanni AM. The adrenogenital syndrome with deficiency of 3 beta-hydroxysteroid dehydrogenase. J Clin Invest 1962, 41: 2086\u201392.","journal-title":"J Clin Invest"},{"key":"BF03346683_CR48","volume-title":"The adrenal hyperplasias","author":"MI New","year":"1989","unstructured":"New MI, White PC, Pang SA, Dupont B, Speiser PW. The adrenal hyperplasias. 6th ed. New York: McGraw-Hill, 1989.","edition":"6th"},{"key":"BF03346683_CR49","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0022-3476(87)80334-7","volume":"111","author":"WL Miller","year":"1987","unstructured":"Miller WL, Levine LS. Molecular and clinical advances in congenital adrenal hyperplasia. J Pediatr 1987, 111: 1\u201317.","journal-title":"J Pediatr"},{"key":"BF03346683_CR50","first-page":"241","volume":"78","author":"WL Miller","year":"1994","unstructured":"Miller WL. Genetics, diagnosis, and management of 21-hydroxylase deficiency. J Clin Endocrinol Metab 1994, 78: 241\u20136.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03346683_CR51","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1016\/S0140-6736(98)22037-X","volume":"352","author":"IA Hughes","year":"1998","unstructured":"Hughes IA. Congenital adrenal hyperplasia\u2014a continuum of disorders. Lancet 1998, 352: 752\u20134.","journal-title":"Lancet"},{"key":"BF03346683_CR52","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1159\/000049997","volume":"55","author":"JW Honour","year":"2001","unstructured":"Honour JW, Torresani T. Evaluation of neonatal screening for congenital adrenal hyperplasia. Horm Res 2001, 55: 206\u201311.","journal-title":"Horm Res"},{"key":"BF03346683_CR53","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.1210\/jcem-45-5-1003","volume":"45","author":"S Pang","year":"1977","unstructured":"Pang S, Hotchkiss J, Drash AL, Levine LS, New MI. Microfilter paper method for 17 alpha-hydroxyprogesterone radioimmunoassay: its application for rapid screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab 1977, 45: 1003\u20138.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03346683_CR54","first-page":"245","volume":"21","author":"PC White","year":"2000","unstructured":"White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 2000, 21: 245\u201391.","journal-title":"Endocr Rev"},{"key":"BF03346683_CR55","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/S0889-8529(08)70017-3","volume":"30","author":"BL Therrell","year":"2001","unstructured":"Therrell BL. Newborn screening for congenital adrenal hyperplasia. Endocrinol Metab Clin North Am 2001, 30: 15\u201330.","journal-title":"Endocrinol Metab Clin North Am"},{"key":"BF03346683_CR56","first-page":"650","volume":"37","author":"PW Speiser","year":"1985","unstructured":"Speiser PW, Dupont B, Rubinstein P, Piazza A, Kastelan A, New MI. High frequency of nonclassical steroid 21-hydroxylase deficiency. Am J Hum Genet 1985, 37: 650\u201367.","journal-title":"Am J Hum Genet"},{"key":"BF03346683_CR57","first-page":"960","volume":"84","author":"J Fitness","year":"1999","unstructured":"Fitness J, Dixit N, Webster D, et al. Genotyping of CYP21, linked chromosome 6p markers, and a sex-specific gene in neonatal screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab 1999, 84: 960\u20136.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03346683_CR58","doi-asserted-by":"crossref","first-page":"1206","DOI":"10.1056\/NEJM199610173351607","volume":"335","author":"W Oelkers","year":"1996","unstructured":"Oelkers W. Adrenal insufficiency. N Engl J Med 1996, 335: 1206\u201312.","journal-title":"N Engl J Med"},{"key":"BF03346683_CR59","doi-asserted-by":"crossref","first-page":"1285","DOI":"10.1056\/NEJM199710303371807","volume":"337","author":"SW Lamberts","year":"1997","unstructured":"Lamberts SW, Bruining HA, de Jong FH. Corticosteroid therapy in severe illness. N Engl J Med 1997, 337: 1285\u201392.","journal-title":"N Engl J Med"},{"key":"BF03346683_CR60","doi-asserted-by":"crossref","first-page":"1362","DOI":"10.1056\/NEJM200011093431903","volume":"343","author":"DP Merke","year":"2000","unstructured":"Merke DP, Chrousos GP, Eisenhofer G, et al. Adrenomedullary dysplasia and hypofunction in patients with classic 21-hydroxylase deficiency. N Engl J Med 2000, 343: 1362\u20138.","journal-title":"N Engl J Med"},{"key":"BF03346683_CR61","first-page":"1328","volume":"79","author":"RB Barnes","year":"1994","unstructured":"Barnes RB, Rosenfield RL, Ehrmann DA, et al. Ovarian hyperandrogynism as a result of congenital adrenal virilizing disorders: evidence for perinatal masculinization of neuroendocrine function in women. J Clin Endocrinol Metab 1994, 79: 1328\u201333.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03346683_CR62","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1210\/jcem.86.1.7131","volume":"86","author":"C Deneux","year":"2001","unstructured":"Deneux C, Tardy V, Dib A, et al. Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab 2001, 86: 207\u201313.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03346683_CR63","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1056\/NEJM198701223160402","volume":"316","author":"RM Mulaikal","year":"1987","unstructured":"Mulaikal RM, Migeon CJ, Rock JA. Fertility rates in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. N Engl J Med 1987, 316: 178\u201382.","journal-title":"N Engl J Med"},{"key":"BF03346683_CR64","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1016\/S0889-8529(08)70027-6","volume":"30","author":"JC Lo","year":"2001","unstructured":"Lo JC, Grumbach MM. Pregnancy outcomes in women with congenital virilizing adrenal hyperplasia. Endocrinol Metab Clin North Am 2001, 30: 207\u201329.","journal-title":"Endocrinol Metab Clin North Am"},{"key":"BF03346683_CR65","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1046\/j.1365-2265.1997.1360962.x","volume":"46","author":"LD Premawardhana","year":"1997","unstructured":"Premawardhana LD, Hughes IA, Read GF, Scanlon MF. Longer term outcome in females with congenital adrenal hyperplasia (CAH): the Cardiff experience. Clin Endocrinol (Oxf) 1997, 46: 327\u201332.","journal-title":"Clin Endocrinol (Oxf)"},{"key":"BF03346683_CR66","doi-asserted-by":"crossref","first-page":"1392","DOI":"10.1056\/NEJM197812212992505","volume":"299","author":"MD Urban","year":"1978","unstructured":"Urban MD, Lee PA, Migeon CJ. Adult height and fertility in men with congenital virilizing adrenal hyperplasia. N Engl J Med 1978, 299: 1392\u20136.","journal-title":"N Engl J Med"},{"key":"BF03346683_CR67","first-page":"3070","volume":"86","author":"MS Cabrera","year":"2001","unstructured":"Cabrera MS, Vogiatzi MG, New MI. Long term outcome in adult males with classic congenital adrenal hyperplasia. J Clin Endocrinol Metab 2001, 86: 3070\u20138.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03346683_CR68","doi-asserted-by":"crossref","first-page":"5721","DOI":"10.1210\/jcem.86.12.8090","volume":"86","author":"NM Stikkelbroeck","year":"2001","unstructured":"Stikkelbroeck NM, Otten BJ, Pasic A, et al. High prevalence of testicular adrenal rest tumors, impaired spermatogenesis, and Leydig cell failure in adolescent and adult males with congenital adrenal hyperplasia. J Clin Endocrinol Metab 2001, 86: 5721\u20138.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03346683_CR69","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1093\/humrep\/16.2.263","volume":"16","author":"H Murphy","year":"2001","unstructured":"Murphy H, George C, de Kretser D, Judd S. Successful treatment with ICSI of infertility caused by azoospermia associated with adrenal rests in the testes: case report. Hum Reprod 2001, 16: 263\u20137.","journal-title":"Hum Reprod"},{"key":"BF03346683_CR70","doi-asserted-by":"crossref","first-page":"1460","DOI":"10.1016\/S0022-5347(01)65023-7","volume":"157","author":"BR Walker","year":"1997","unstructured":"Walker BR, Skoog SJ, Winslow BH, Canning DA, Tank ES. Testis sparing surgery for steroid unresponsive testicular tumors of the adrenogenital syndrome. J Urol 1997, 157: 1460\u20133.","journal-title":"J Urol"},{"key":"BF03346683_CR71","first-page":"362","volume":"98","author":"A Balsamo","year":"1996","unstructured":"Balsamo A, Cacciari E, Piazzi S, et al. Congenital adrenal hyperplasia: neonatal mass screening compared with clinical diagnosis only in the Emilia-Romagna region of Italy, 1980\u20131995. Pediatrics 1996, 98: 362\u20137.","journal-title":"Pediatrics"},{"key":"BF03346683_CR72","doi-asserted-by":"crossref","first-page":"2350","DOI":"10.1210\/jcem.82.7.4094","volume":"82","author":"T Tajima","year":"1997","unstructured":"Tajima T, Fujieda K, Nakae J, et al. Molecular basis of nonclassical steroid 21-hydroxylase deficiency detected by neonatal mass screening in Japan. J Clin Endocrinol Metab 1997, 82: 2350\u20136.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03346683_CR73","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1542\/peds.101.4.583","volume":"101","author":"BL Therrell Jr","year":"1998","unstructured":"Therrell BL Jr, 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\u201390.","journal-title":"Pediatrics"},{"key":"BF03346683_CR74","doi-asserted-by":"crossref","first-page":"1468","DOI":"10.1067\/mob.2000.108020","volume":"183","author":"C Moran","year":"2000","unstructured":"Moran C, Azziz R, Carmina E, et al. 21-Hydroxylase-deficient non-classic adrenal hyperplasia is a progressive disorder: a multicenter study. Am J Obstet Gynecol 2000, 183: 1468\u201374.","journal-title":"Am J Obstet Gynecol"},{"key":"BF03346683_CR75","first-page":"479","volume":"82","author":"ES Knochenhauer","year":"1997","unstructured":"Knochenhauer ES, Cortet-Rudelli C, Cunnigham RD, Conway-Myers BA, Dewailly D, Azziz R. Carriers of 21-hydroxylase deficiency are not at increased risk for hyperandrogenism. J Clin Endocrinol Metab 1997, 82: 479\u201385.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03346683_CR76","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1007\/s10545-007-0696-6","volume":"30","author":"T Torresani","year":"2007","unstructured":"Torresani T, Biason-Lauber A. Congenital adrenal hyperplasia: diagnostic advances. J Inherit Metab Dis 2007, 30: 563\u201375.","journal-title":"J Inherit Metab Dis"},{"key":"BF03346683_CR77","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1159\/000065490","volume":"58","author":"PE Clayton","year":"2002","unstructured":"Clayton PE, Miller WL, Oberfield SE, Ritz\u00e9n EM, Sippell WG, Speiser PW; ESPE\/ LWPES CAH Working Group. Consensus statement on 21-hydroxylase deficiency from the European Society for Paediatric Endocrinology and the Lawson Wilkins Pediatric Endocrine Society. Horm Res 2002, 58: 188\u201395.","journal-title":"Horm Res"},{"key":"BF03346683_CR78","doi-asserted-by":"crossref","first-page":"4996","DOI":"10.1073\/pnas.89.11.4996","volume":"89","author":"L Pascoe","year":"1992","unstructured":"Pascoe L, Curnow KM, Slutsker L, Rosler A, White PC. Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency. Proc Natl Acad Sci U S A 1992, 89: 4996\u20135000.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"BF03346683_CR79","first-page":"4156","volume":"83","author":"S Portrat-Doyen","year":"1998","unstructured":"Portrat-Doyen S, Tourniaire J, Richard O, et al. Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene. J Clin Endocrinol Metab 1998, 83: 4156\u201361.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03346683_CR80","first-page":"1","volume":"79","author":"MI New","year":"1994","unstructured":"New MI. The prismatic case of apparent mineralocorticoid excess. J Clin Endocrinol Metab 1994, 79: 1\u20133.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03346683_CR81","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1210\/er.2003-0031","volume":"25","author":"JW Tomlinson","year":"2004","unstructured":"Tomlinson JW, Walker EA, Bujalska IJ, et al. 11beta-hydroxysteroid dehydrogenase type 1: a tissue-specific regulator of glucocorticoid response. Endocr Rev 2004, 25: 831\u201366.","journal-title":"Endocr Rev"},{"key":"BF03346683_CR82","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1159\/000023577","volume":"53","author":"A Biason-Lauber","year":"2000","unstructured":"Biason-Lauber A, Suter SL, Shackleton CH, Zachmann M. Apparent cortisone reductase deficiency: a rare cause of hyperandrogenemia and hypercortisolism. Horm Res 2000, 53: 260\u20136.","journal-title":"Horm Res"},{"key":"BF03346683_CR83","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/ng1214","volume":"34","author":"N Draper","year":"2003","unstructured":"Draper N, Walker EA, Bujalska IJ, 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\u20139.","journal-title":"Nat Genet"},{"key":"BF03346683_CR84","first-page":"3570","volume":"84","author":"A Jamieson","year":"1999","unstructured":"Jamieson A, Wallace AM, Andrew R, et al. Apparent cortisone reductase deficiency: a functional defect in 11beta-hydroxysteroid dehydrogenase type 1. J Clin Endocrinol Metab 1999, 84: 3570\u20134.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03346683_CR85","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1159\/000069326","volume":"59","author":"EM Malunowicz","year":"2003","unstructured":"Malunowicz EM, Romer TE, Urban M, Bossowski A. 11beta-hydroxysteroid dehydrogenase type 1 deficiency (\u2018apparent cortisone reductase deficiency\u2019) in a 6-year-old boy. Horm Res 2003, 59: 205\u201310.","journal-title":"Horm Res"},{"key":"BF03346683_CR86","first-page":"687","volume":"77","author":"H Nikkil\u00e4","year":"1993","unstructured":"Nikkil\u00e4 H, Tannin GM, New MI, et al. Defects in the HSD11 gene encoding 11 beta-hydroxysteroid dehydrogenase are not found in patients with apparent mineralocorticoid excess or 11-oxoreductase deficiency. J Clin Endocrinol Metab 1993, 77: 687\u201391.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03346683_CR87","first-page":"3855","volume":"81","author":"G Phillipov","year":"1996","unstructured":"Phillipov G, Palermo M, Shackleton CH. Apparent cortisone reductase deficiency: a unique form of hypercortisolism. J Clin Endocrinol Metab 1996, 81: 3855\u201360.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03346683_CR88","doi-asserted-by":"crossref","first-page":"3827","DOI":"10.1210\/jc.2008-0743","volume":"93","author":"GG Lavery","year":"2008","unstructured":"Lavery GG, Walker EA, Tiganescu A, et al. Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency. J Clin Endocrinol Metab 2008, 93: 3827\u201332.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03346683_CR89","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1210\/jcem-55-3-487","volume":"55","author":"M Zachmann","year":"1982","unstructured":"Zachmann M, Werder EA, Prader A. Two types of male pseudohermaphroditism due to 17, 20-desmolase deficiency. J Clin Endocrinol Metab 1982, 55: 487\u201390.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03346683_CR90","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1016\/S0022-5347(17)45108-1","volume":"136","author":"J Imperato-McGinley","year":"1986","unstructured":"Imperato-McGinley J, Gautier T, Peterson RE, Shackleton C. The prevalence of 5 alpha-reductase deficiency in children with ambiguous genitalia in the Dominican Republic. J Urol 1986, 136: 867\u201373.","journal-title":"J Urol"},{"key":"BF03346683_CR91","first-page":"1287","volume":"78","author":"FA Conte","year":"1994","unstructured":"Conte FA, Grumbach MM, Ito Y, Fisher CR, Simpson ER. A syndrome of female pseudohermaphrodism, hypergonadotropic hypogonadism, and multicystic ovaries associated with missense mutations in the gene encoding aromatase (P450arom). J Clin Endocrinol Metab 1994, 78: 1287\u201392.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03346683_CR92","first-page":"3689","volume":"80","author":"A Morishima","year":"1995","unstructured":"Morishima A, Grumbach MM, Simpson ER, Fisher C, Qin K. Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens. J Clin Endocrinol Metab 1995, 80: 3689\u201398.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03346683_CR93","doi-asserted-by":"crossref","first-page":"982","DOI":"10.1210\/jc.2006-1181","volume":"92","author":"L Lin","year":"2007","unstructured":"Lin L, Ercan O, Raza J, et al. Variable phenotypes associated with aromatase (CYP19) insufficiency in humans. J Clin Endocrinol Metab 2007, 92: 982\u201390.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03346683_CR94","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1210\/jc.2003-030313","volume":"89","author":"L Maffei","year":"2004","unstructured":"Maffei L, Murata Y, Rochira V, et al. Dysmetabolic syndrome in a man with a novel mutation of the aromatase gene: effects of testosterone, alendronate, and estradiol treatment. J Clin Endocrinol Metab 2004, 89: 61\u201370.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03346683_CR95","first-page":"1739","volume":"82","author":"PE Mullis","year":"1997","unstructured":"Mullis PE, Yoshimura N, Kuhlmann B, Lippuner K, Jaeger P, Harada H. Aromatase deficiency in a female who is compound heterozygote for two new point mutations in the P450arom gene: impact of estrogens on hypergonadotropic hypogonadism, multicystic ovaries, and bone densitometry in childhood. J Clin Endocrinol Metab 1997, 82: 1739\u201345.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03346683_CR96","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1210\/jcem.81.3.8772541","volume":"81","author":"SE Bulun","year":"1996","unstructured":"Bulun SE. Aromatase deficiency in women and men: would you have predicted the phenotypes? J Clin Endocrinol Metab 1996, 81: 867\u201371.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03346683_CR97","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1055\/s-2004-823023","volume":"22","author":"ER Simpson","year":"2004","unstructured":"Simpson ER. Aromatase: biologic relevance of tissue-specific expression. Semin Reprod Med 2004, 22: 11\u201323.","journal-title":"Semin Reprod Med"},{"key":"BF03346683_CR98","doi-asserted-by":"crossref","unstructured":"Simpson ER, Jones ME. Of mice and men: the many guises of estrogens. Ernst Schering Found Symp Proc 2006: 45\u201367.","DOI":"10.1007\/2789_2006_016"},{"key":"BF03346683_CR99","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1096\/fasebj.11.1.9034163","volume":"11","author":"ER Simpson","year":"1997","unstructured":"Simpson ER, Michael MD, Agarwal VR, Hinshelwood MM, Bulun SE, Zhao Y. Cytochromes P450 11: expression of the CYP19 (aromatase) gene: an unusual case of alternative promoter usage. Faseb J 1997, 11: 29\u201336.","journal-title":"Faseb J"},{"key":"BF03346683_CR100","doi-asserted-by":"crossref","first-page":"1855","DOI":"10.1056\/NEJMoa021559","volume":"348","author":"M Shozu","year":"2003","unstructured":"Shozu M, Sebastian S, Takayama K, et al. Estrogen excess associated with novel gain-of-function mutations affecting the aromatase gene. N Engl J Med 2003, 348: 1855\u201365.","journal-title":"N Engl J Med"},{"key":"BF03346683_CR101","doi-asserted-by":"crossref","first-page":"4184","DOI":"10.1210\/jc.2004-2176","volume":"90","author":"A Tiulpakov","year":"2005","unstructured":"Tiulpakov A, Kalintchenko N, Semitcheva T, et al. A potential rearrangement between CYP19 and TRPM7 genes on chromosome 15q21.2 as a cause of aromatase excess syndrome. J Clin Endocrinol Metab 2005, 90: 4184\u201390.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03346683_CR102","doi-asserted-by":"crossref","first-page":"1763","DOI":"10.1172\/JCI111888","volume":"75","author":"GD Berkovitz","year":"1985","unstructured":"Berkovitz GD, Guerami A, Brown TR, MacDonald PC, Migeon CJ. Familial gynecomastia with increased extraglandular aromatization of plasma carbon19-steroids. J Clin Invest 1985, 75: 1763\u20139.","journal-title":"J Clin Invest"},{"key":"BF03346683_CR103","first-page":"1348","volume":"83","author":"CA Stratakis","year":"1998","unstructured":"Stratakis CA, Vottero A, Brodie A, et al. The aromatase excess syndrome is associated with feminization of both sexes and autosomal dominant transmission of aberrant P450 aromatase gene transcription. J Clin Endocrinol Metab 1998, 83: 1348\u201357.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03346683_CR104","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1159\/000182290","volume":"37","author":"E Leiberman","year":"1992","unstructured":"Leiberman E, Zachmann M. Familial adrenal feminization probably due to increased steroid aromatization. Horm Res 1992, 37: 96\u2013102.","journal-title":"Horm Res"},{"key":"BF03346683_CR105","first-page":"1321","volume":"314","author":"WL Miller","year":"1986","unstructured":"Miller WL. Congenital adrenal hyperplasia. N Engl J Med 1986, 314: 1321\u20132.","journal-title":"N Engl J Med"},{"key":"BF03346683_CR106","doi-asserted-by":"crossref","first-page":"1182","DOI":"10.1056\/NEJM198511073131903","volume":"313","author":"RE Peterson","year":"1985","unstructured":"Peterson RE, Imperato-McGinley J, Gautier T, Shackleton C. Male pseudohermaphroditism due to multiple defects in steroid-biosynthetic microsomal mixed-function oxidases. A new variant of congenital adrenal hyperplasia. N Engl J Med 1985, 313: 1182\u201391.","journal-title":"N Engl J Med"},{"key":"BF03346683_CR107","first-page":"397","volume":"11","author":"R Antley","year":"1975","unstructured":"Antley R, Bixler D. Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures. Birth Defects Orig Artic Ser 1975, 11: 397\u2013401.","journal-title":"Birth Defects Orig Artic Ser"},{"key":"BF03346683_CR108","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1097\/00019605-199701000-00011","volume":"6","author":"G Crisponi","year":"1997","unstructured":"Crisponi G, Porcu C, Piu ME. Antley-Bixler syndrome: case report and review of the literature. Clin Dysmorphol 1997, 6: 61\u20138.","journal-title":"Clin Dysmorphol"},{"key":"BF03346683_CR109","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1038\/ng1300","volume":"36","author":"CE Fluck","year":"2004","unstructured":"Fluck CE, Tajima T, Pandey AV, et al. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet 2004, 36: 228\u201330.","journal-title":"Nat Genet"},{"key":"BF03346683_CR110","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1159\/000114857","volume":"69","author":"RR Scott","year":"2008","unstructured":"Scott RR, Miller WL. Genetic and clinical features of p450 oxidoreductase deficiency. Horm Res 2008, 69: 266\u201375.","journal-title":"Horm Res"},{"key":"BF03346683_CR111","volume-title":"P450 oxidoreductase deficiency-a new form of congenital adrenal hyperplasia","author":"C Fluck","year":"2008","unstructured":"Fluck C, Pandey A, Huang N, Agrawal V, Miller WL. P450 oxidoreductase deficiency-a new form of congenital adrenal hyperplasia. Basel: Karger, 2008."}],"container-title":["Journal of Endocrinological Investigation"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF03346683.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF03346683\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF03346683","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,8,8]],"date-time":"2019-08-08T20:03:36Z","timestamp":1565294616000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF03346683"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,2,24]]},"references-count":111,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2010,11]]}},"alternative-id":["BF03346683"],"URL":"https:\/\/doi.org\/10.1007\/bf03346683","relation":{},"ISSN":["0391-4097","1720-8386"],"issn-type":[{"value":"0391-4097","type":"print"},{"value":"1720-8386","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,2,24]]}}}