{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,3]],"date-time":"2026-04-03T21:46:20Z","timestamp":1775252780383,"version":"3.50.1"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2024,12,26]],"date-time":"2024-12-26T00:00:00Z","timestamp":1735171200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2024,12,26]],"date-time":"2024-12-26T00:00:00Z","timestamp":1735171200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Assist Reprod Genet"],"published-print":{"date-parts":[[2025,2]]},"DOI":"10.1007\/s10815-024-03366-5","type":"journal-article","created":{"date-parts":[[2024,12,26]],"date-time":"2024-12-26T02:56:48Z","timestamp":1735181808000},"page":"679-686","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["An isolated 17,20-lyase deficiency patient achieved a successful live birth after in vitro fertilization: a case report and narrative review"],"prefix":"10.1007","volume":"42","author":[{"given":"Zhijin","family":"Hou","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fangjie","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenan","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shenglan","family":"Fu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5770-2375","authenticated-orcid":false,"given":"Yushi","family":"Meng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,12,26]]},"reference":[{"issue":"Pt A","key":"3366_CR1","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1016\/j.jsbmb.2016.02.002","volume":"165","author":"RJ Auchus","year":"2017","unstructured":"Auchus RJ. Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic. J Steroid Biochem. 2017;165(Pt A):71\u20138. https:\/\/doi.org\/10.1016\/j.jsbmb.2016.02.002.","journal-title":"J Steroid Biochem"},{"key":"3366_CR2","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1159\/000343181","volume":"78","author":"N Camats","year":"2012","unstructured":"Camats N, Aud\u00ed L, Monne R, Fern\u00e1ndez-Cancio M, Tor\u00e1n N, Mullis PE, et al. Characterization of two novel CYP17A1 mutations causing apparent 17,20 lyase deficiency in a 46, XY DSD patient. Hormone Res Paediatrics. 2012;78:25\u20136. https:\/\/doi.org\/10.1159\/000343181.","journal-title":"Hormone Res Paediatrics"},{"issue":"4\u20136","key":"3366_CR3","doi-asserted-by":"publisher","first-page":"759","DOI":"10.1016\/0022-4731(87)90147-6","volume":"27","author":"WL Miller","year":"1987","unstructured":"Miller WL. Structure of genes encoding steroidogenic enzymes. J Steroid Biochem. 1987;27(4\u20136):759\u201366. https:\/\/doi.org\/10.1016\/0022-4731(87)90147-6.","journal-title":"J Steroid Biochem"},{"issue":"4781","key":"3366_CR4","doi-asserted-by":"publisher","first-page":"1258","DOI":"10.1126\/science.3535074","volume":"234","author":"MX Zuber","year":"1986","unstructured":"Zuber MX, Simpson ER, Waterman MR. Expression of bovine 17 alpha-hydroxylase cytochrome P-450 cDNA in nonsteroidogenic (COS 1) cells. Science. 1986;234(4781):1258\u201361. https:\/\/doi.org\/10.1126\/science.3535074.","journal-title":"Science"},{"key":"3366_CR5","doi-asserted-by":"crossref","unstructured":"Imai T, Globerman H, Gertner JM, Kagawa N, Waterman MR (1993) Expression and purification of functional human 17 alpha-hydroxylase\/17,20-lyase (P450c17) in Escherichia coli. Use of this system for study of a novel form of combined 17 alpha-hydroxylase\/17,20-lyase deficiency. Journal of biological chemistry. 268(26):19681\u20139.","DOI":"10.1016\/S0021-9258(19)36570-6"},{"issue":"7","key":"3366_CR6","doi-asserted-by":"publisher","first-page":"1169","DOI":"10.1210\/mend.13.7.0326","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(7):1169\u201382. https:\/\/doi.org\/10.1210\/mend.13.7.0326.","journal-title":"Mol Endocrinol"},{"issue":"18","key":"3366_CR7","doi-asserted-by":"publisher","first-page":"1954","DOI":"10.1002\/cbic.201800371","volume":"19","author":"LK Morlock","year":"2018","unstructured":"Morlock LK, Grobe S, Balke K, Mauersberger S, B\u00f6ttcher D, Bornscheuer UT. Protein engineering of the progesterone hydroxylating P450-monooxygenase CYP17A1 alters its regioselectivity. ChemBioChem. 2018;19(18):1954\u20138. https:\/\/doi.org\/10.1002\/cbic.201800371.","journal-title":"ChemBioChem"},{"issue":"1","key":"3366_CR8","doi-asserted-by":"publisher","first-page":"160","DOI":"10.1210\/jcem.79.1.8027220","volume":"79","author":"CE Fardella","year":"1994","unstructured":"Fardella CE, Hum DW, Homoki J, Miller WL. Point mutation of Arg440 to His in cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency. J Clin Endocrinol Metab. 1994;79(1):160\u20134. https:\/\/doi.org\/10.1210\/jcem.79.1.8027220.","journal-title":"J Clin Endocrinol Metab"},{"key":"3366_CR9","doi-asserted-by":"publisher","unstructured":"Capper CP, Liu J, McIntosh LR, Larios JM, Johnson MD, Hollenberg PF, et al (2018) Functional characterization of the G162R and D216H genetic variants of human CYP17A1. J Steroid Biochem. 178(null):159\u201366. https:\/\/doi.org\/10.1016\/j.jsbmb.2017.12.002","DOI":"10.1016\/j.jsbmb.2017.12.002"},{"issue":"34","key":"3366_CR10","doi-asserted-by":"publisher","first-page":"25811","DOI":"10.1016\/S0021-9258(19)74462-7","volume":"268","author":"S Monno","year":"1993","unstructured":"Monno S, Ogawa H, Date T, Fujioka M, Miller WL, Kobayashi M. Mutation of histidine 373 to leucine in cytochrome P450c17 causes 17 alpha-hydroxylase deficiency. J Biol Chem. 1993;268(34):25811\u20137.","journal-title":"J Biol Chem"},{"issue":"1","key":"3366_CR11","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1016\/j.bbrc.2013.11.094","volume":"443","author":"Y Khatri","year":"2014","unstructured":"Khatri Y, Gregory MC, Grinkova YV, Denisov IG, Sligar SG. Active site proton delivery and the lyase activity of human CYP17A1. Biochem Biophys Res Commun. 2014;443(1):179\u201384. https:\/\/doi.org\/10.1016\/j.bbrc.2013.11.094.","journal-title":"Biochem Biophys Res Commun"},{"issue":"12","key":"3366_CR12","doi-asserted-by":"publisher","first-page":"3308","DOI":"10.1021\/ci400553w","volume":"53","author":"YL Cui","year":"2013","unstructured":"Cui YL, Zheng QC, Zhang JL, Xue Q, Wang Y, Zhang HX. Molecular dynamic investigations of the mutational effects on structural characteristics and tunnel geometry in CYP17A1. J Chem Inf Model. 2013;53(12):3308\u201317. https:\/\/doi.org\/10.1021\/ci400553w.","journal-title":"J Chem Inf Model"},{"issue":"3\u20134","key":"3366_CR13","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1159\/000057964","volume":"57","author":"OD Wolthers","year":"2022","unstructured":"Wolthers OD, Rumsby G, Techatraisak K, Honour JW, Hindmarsh PC. 17-Hydroxylase\/17,20 lyase deficiency diagnosed during childhood. Hormone Res. 2022;57(3\u20134):133\u20136. https:\/\/doi.org\/10.1159\/000057964.","journal-title":"Hormone Res"},{"issue":"6","key":"3366_CR14","doi-asserted-by":"publisher","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(6):3158\u201365. https:\/\/doi.org\/10.1074\/jbc.273.6.3158.","journal-title":"J Biol Chem"},{"issue":"2","key":"3366_CR15","doi-asserted-by":"publisher","first-page":"343","DOI":"10.1006\/abbi.1995.1173","volume":"317","author":"M Katagiri","year":"1995","unstructured":"Katagiri M, Kagawa N, Waterman MR. The role of cytochrome b5 in the biosynthesis of androgens by human P450c17. Arch Biochem Biophys. 1995;317(2):343\u20137. https:\/\/doi.org\/10.1006\/abbi.1995.1173.","journal-title":"Arch Biochem Biophys"},{"issue":"1","key":"3366_CR16","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1016\/0960-0760(92)90011-7","volume":"42","author":"S Kominami","year":"1992","unstructured":"Kominami S, Ogawa N, Morimune R, De-Ying H, Takemori S. The role of cytochrome b5 in adrenal microsomal steroidogenesis. J Steroid Biochem. 1992;42(1):57\u201364. https:\/\/doi.org\/10.1016\/0960-0760(92)90011-7.","journal-title":"J Steroid Biochem"},{"issue":"1\u20132","key":"3366_CR17","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1016\/j.jsbmb.2010.11.003","volume":"125","author":"M Akhtar","year":"2011","unstructured":"Akhtar M, Wright JN, Lee-Robichaud P. A review of mechanistic studies on aromatase (CYP19) and 17\u03b1-hydroxylase-17,20-lyase (CYP17). J Steroid Biochem. 2011;125(1\u20132):2\u201312. https:\/\/doi.org\/10.1016\/j.jsbmb.2010.11.003.","journal-title":"J Steroid Biochem"},{"issue":"1","key":"3366_CR18","doi-asserted-by":"publisher","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(1):167\u201375. https:\/\/doi.org\/10.1210\/mend.13.1.0219.","journal-title":"Mol Endocrinol"},{"issue":"2","key":"3366_CR19","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1038\/ng1097-201","volume":"17","author":"DH Geller","year":"1997","unstructured":"Geller DH, Auchus RJ, Mendon\u00e7a BB, Miller WL. The genetic and functional basis of isolated 17,20-lyase deficiency. Nat Genet. 1997;17(2):201\u20135.","journal-title":"Nat Genet"},{"issue":"49","key":"3366_CR20","doi-asserted-by":"publisher","first-page":"48563","DOI":"10.1074\/jbc.M307586200","volume":"278","author":"DP Sherbet","year":"2003","unstructured":"Sherbet DP, Tiosano D, Kwist KM, Hochberg Z, Auchus RJ. CYP17 mutation E305G causes isolated 17,20-lyase deficiency by selectively altering substrate binding. J Biol Chem. 2003;278(49):48563\u20139. https:\/\/doi.org\/10.1074\/jbc.M307586200.","journal-title":"J Biol Chem"},{"issue":"12","key":"3366_CR21","doi-asserted-by":"publisher","first-page":"5714","DOI":"10.1210\/jc.2001-011880","volume":"87","author":"EL Van Den Akker","year":"2002","unstructured":"Van Den Akker EL, Koper JW, Boehmer AL, Themmen AP, Verhoef-Post M, Timmerman MA, et al. Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency. J Clin Endocrinol Metab. 2002;87(12):5714\u201321. https:\/\/doi.org\/10.1210\/jc.2001-011880.","journal-title":"J Clin Endocrinol Metab"},{"issue":"14","key":"3366_CR22","doi-asserted-by":"publisher","first-page":"13265","DOI":"10.1074\/jbc.M414673200","volume":"280","author":"AV Pandey","year":"2005","unstructured":"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\u201371. https:\/\/doi.org\/10.1074\/jbc.M414673200.","journal-title":"J Biol Chem"},{"key":"3366_CR23","doi-asserted-by":"publisher","unstructured":"Diyu Z, Wenjuan Q, Maosheng X, Jihang L, Jun Y, Lianshu H, et al. (2016) Clinical and genetic analysis of an infant with isolated 17, 20-lyase deficiency. (8):4. https:\/\/doi.org\/10.3760\/cma.j.issn.0578-1310.2016.08.014","DOI":"10.3760\/cma.j.issn.0578-1310.2016.08.014"},{"issue":"3","key":"3366_CR24","doi-asserted-by":"publisher","first-page":"1226","DOI":"10.1210\/jcem.85.3.6475","volume":"85","author":"A Biason-Lauber","year":"2000","unstructured":"Biason-Lauber A, Kempken B, Werder E, Forest MG, Einaudi S, Ranke MB, 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(3):1226\u201331. https:\/\/doi.org\/10.1210\/jcem.85.3.6475.","journal-title":"J Clin Endocrinol Metab"}],"container-title":["Journal of Assisted Reproduction and Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10815-024-03366-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10815-024-03366-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10815-024-03366-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,28]],"date-time":"2025-02-28T13:40:21Z","timestamp":1740750021000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10815-024-03366-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,26]]},"references-count":24,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025,2]]}},"alternative-id":["3366"],"URL":"https:\/\/doi.org\/10.1007\/s10815-024-03366-5","relation":{},"ISSN":["1058-0468","1573-7330"],"issn-type":[{"value":"1058-0468","type":"print"},{"value":"1573-7330","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,12,26]]},"assertion":[{"value":"3 October 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 December 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 December 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The patient provided written informed consent to participate in this study and for the publication of any potentially identifiable images or data included in this article.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}