{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:58:12Z","timestamp":1760785092447,"version":"build-2065373602"},"reference-count":41,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Steroid Biochemistry and Molecular Biology"],"published-print":{"date-parts":[[2023,1]]},"DOI":"10.1016\/j.jsbmb.2022.106191","type":"journal-article","created":{"date-parts":[[2022,9,22]],"date-time":"2022-09-22T12:51:05Z","timestamp":1663851065000},"page":"106191","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"special_numbering":"C","title":["Lessons from 17\u03b2-HSD3 deficiency: Clinical spectrum and complex molecular basis in Chinese patients"],"prefix":"10.1016","volume":"225","author":[{"given":"Hui","family":"Zhu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haijun","family":"Yao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuemeng","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yue","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yang","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qingqiong","family":"Luo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuanping","family":"Shi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fuxiang","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuangxia","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huaidong","family":"Song","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bing","family":"Han","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Qiao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jsbmb.2022.106191_bib1","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1111\/j.1365-2265.2008.03392.x","article-title":"46,XY disorders of sex development (DSD)","volume":"70","author":"Mendonca","year":"2009","journal-title":"Clin. Endocrinol."},{"key":"10.1016\/j.jsbmb.2022.106191_bib2","first-page":"4713","article-title":"17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations","volume":"84","author":"Boehmer","year":"1999","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.jsbmb.2022.106191_bib3","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1186\/s12902-017-0198-y","article-title":"Participation of adults with disorders\/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population","volume":"17","author":"R\u00f6hle","year":"2017","journal-title":"BMC Endocr. Disord."},{"issue":"3","key":"10.1016\/j.jsbmb.2022.106191_bib4","first-page":"455","article-title":"17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population","volume":"Suppl 3","author":"Rosler","year":"2006","journal-title":"Pediatr. Endocrinol. Rev.: PER"},{"key":"10.1016\/j.jsbmb.2022.106191_bib5","first-page":"1827","article-title":"A (R80Q) mutation in 17 beta-hydroxysteroid dehydrogenase type 3 gene among Arabs of Israel is associated with pseudohermaphroditism in males and normal asymptomatic females","volume":"81","author":"R\u00f6sler","year":"1996","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.jsbmb.2022.106191_bib6","first-page":"130","article-title":"Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency","volume":"81","author":"Andersson","year":"1996","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.jsbmb.2022.106191_bib7","first-page":"299","article-title":"Male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase 3 deficiency","volume":"79","author":"Mendonca","year":"2000","journal-title":"Diagn. Psychol. Eval. Manag. Med."},{"key":"10.1016\/j.jsbmb.2022.106191_bib8","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1111\/j.1365-2265.2007.02829.x","article-title":"Phenotypic variability in 17beta-hydroxysteroid dehydrogenase-3 deficiency and diagnostic pitfalls","volume":"67","author":"Lee","year":"2007","journal-title":"Clin. Endocrinol."},{"key":"10.1016\/j.jsbmb.2022.106191_bib9","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1007\/BF03345572","article-title":"Clinical, endocrine, and molecular findings in 17beta-hydroxysteroid dehydrogenase type 3 deficiency","volume":"31","author":"Faienza","year":"2008","journal-title":"J. Endocrinol. Investig."},{"key":"10.1016\/j.jsbmb.2022.106191_bib10","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1159\/000318004","article-title":"The clinical and molecular heterogeneity of 17\u03b2HSD-3 enzyme deficiency","volume":"74","author":"George","year":"2010","journal-title":"Horm. Res. Paediatr."},{"key":"10.1016\/j.jsbmb.2022.106191_bib11","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/j.jsbmb.2016.05.002","article-title":"46,XY disorder of sex development (DSD) due to 17\u03b2-hydroxysteroid dehydrogenase type 3 deficiency","volume":"165","author":"Mendonca","year":"2017","journal-title":"J. Steroid Biochem. Mol. Biol."},{"key":"10.1016\/j.jsbmb.2022.106191_bib12","first-page":"e488","article-title":"Consensus statement on management of intersex disorders","volume":"118","author":"Lee","year":"2006","journal-title":"Int. Consens. Conf. Inter., Pediatr."},{"key":"10.1016\/j.jsbmb.2022.106191_bib13","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/S0039-128X(96)00173-0","article-title":"Physiology and molecular genetics of 17 beta-hydroxysteroid dehydrogenases","volume":"62","author":"Andersson","year":"1997","journal-title":"Steroids"},{"key":"10.1016\/j.jsbmb.2022.106191_bib14","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1007\/s10508-005-4339-4","article-title":"Gender change in 46,XY persons with 5alpha-reductase-2 deficiency and 17beta-hydroxysteroid dehydrogenase-3 deficiency","volume":"34","author":"Cohen-Kettenis","year":"2005","journal-title":"Arch. Sex. Behav."},{"key":"10.1016\/j.jsbmb.2022.106191_bib15","first-page":"773","article-title":"Mechanisms of androgen production in male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase deficiency","volume":"75","author":"R\u00f6sler","year":"1992","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.jsbmb.2022.106191_bib16","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1590\/S0004-27302012000800012","article-title":"Clinical and molecular spectrum of patients with 17\u03b2-hydroxysteroid dehydrogenase type 3 (17-\u03b2-HSD3) deficiency","volume":"56","author":"Castro","year":"2012","journal-title":"Arq. Bras. De. Endocrinol. e Metabol."},{"key":"10.1016\/j.jsbmb.2022.106191_bib17","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1038\/ng0594-34","article-title":"Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3","volume":"7","author":"Geissler","year":"1994","journal-title":"Nat. Genet."},{"key":"10.1016\/j.jsbmb.2022.106191_bib18","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1530\/EJE-14-0994","article-title":"Screening for mutations in 17\u03b2-hydroxysteroid dehydrogenase and androgen receptor in women presenting with partially virilised 46,XY disorders of sex development","volume":"172","author":"Phelan","year":"2015","journal-title":"Eur. J. Endocrinol."},{"key":"10.1016\/j.jsbmb.2022.106191_bib19","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1046\/j.1365-2265.2000.01166.x","article-title":"The testosterone:androstenedione ratio in male undermasculinization","volume":"53","author":"Faisal Ahmed","year":"2000","journal-title":"Clin. Endocrinol."},{"key":"10.1016\/j.jsbmb.2022.106191_bib20","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1080\/09513590600921358","article-title":"17beta-hydroxysteroid dehydrogenase-3 deficiency: a rare endocrine cause of male-to-female sex reversal","volume":"22","author":"Bertelloni","year":"2006","journal-title":"Gynecol. Endocrinol.: Off. J. Int. Soc. Gynecol. Endocrinol."},{"key":"10.1016\/j.jsbmb.2022.106191_bib21","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1007\/BF03345738","article-title":"17beta-Hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence","volume":"32","author":"Bertelloni","year":"2009","journal-title":"J. Endocrinol. Investig."},{"key":"10.1016\/j.jsbmb.2022.106191_bib22","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1515\/jpem-2014-0295","article-title":"Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency","volume":"28","author":"Khattab","year":"2015","journal-title":"J. Pediatr. Endocrinol. Metab.: JPEM"},{"key":"10.1016\/j.jsbmb.2022.106191_bib23","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med.: Off. J. Am. Coll. Med. Genet."},{"key":"10.1016\/j.jsbmb.2022.106191_bib24","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1186\/s13023-021-01765-w","article-title":"Phenotypic and biochemical characteristics and molecular basis in 36 Chinese patients with androgen receptor variants","volume":"16","author":"Zhu","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.jsbmb.2022.106191_bib25","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1007\/s00439-018-1879-y","article-title":"Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patients with variable phenotypes","volume":"137","author":"Wang","year":"2018","journal-title":"Hum. Genet."},{"key":"10.1016\/j.jsbmb.2022.106191_bib26","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1038\/ng.898","article-title":"A genome-wide association study identifies two new risk loci for Graves' disease","volume":"43","author":"Chu","year":"2011","journal-title":"Nat. Genet."},{"key":"10.1016\/j.jsbmb.2022.106191_bib27","doi-asserted-by":"crossref","first-page":"936","DOI":"10.1038\/35073593","article-title":"responsive RNA element mediates depolarization-induced alternative splicing of ion channels","volume":"410","author":"Xie","year":"2001","journal-title":"Nature"},{"key":"10.1016\/j.jsbmb.2022.106191_bib28","doi-asserted-by":"crossref","first-page":"E855","DOI":"10.1002\/humu.21072","article-title":"A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism","volume":"30","author":"Qiao","year":"2009","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.jsbmb.2022.106191_bib29","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1210\/jcem-32-5-604","article-title":"Familial male pseudohermaphroditism with gynecomastia due to a testicular 17-ketosteroid reductase defect. I. Studies in vivo","volume":"32","author":"Saez","year":"1971","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.jsbmb.2022.106191_bib30","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1186\/1687-9856-2013-15","article-title":"Complexities of gender assignment in 17\u03b2-hydroxysteroid dehydrogenase type 3 deficiency: is there a role for early orchiectomy?","volume":"2013","author":"Chuang","year":"2013","journal-title":"Int. J. Pediatr. Endocrinol."},{"key":"10.1016\/j.jsbmb.2022.106191_bib31","doi-asserted-by":"crossref","first-page":"577","DOI":"10.4103\/aja.aja_113_18","article-title":"Identification of three novel SRD5A2 mutations in Chinese patients with 5\u03b1-reductase 2 deficiency","volume":"21","author":"Cheng","year":"2019","journal-title":"Asian J. Androl."},{"key":"10.1016\/j.jsbmb.2022.106191_bib32","first-page":"658","article-title":"Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome","volume":"85","author":"Ahmed","year":"2000","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.jsbmb.2022.106191_bib33","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/j.ajhg.2020.05.015","article-title":"High-throughput reclassification of SCN5A variants","volume":"107","author":"Glazer","year":"2020","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.jsbmb.2022.106191_bib34","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nrg775","article-title":"Listening to silence and understanding nonsense: exonic mutations that affect splicing","volume":"3","author":"Cartegni","year":"2002","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.jsbmb.2022.106191_bib35","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1093\/hmg\/9.2.237","article-title":"Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1","volume":"9","author":"Ars","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.jsbmb.2022.106191_bib36","doi-asserted-by":"crossref","first-page":"1617","DOI":"10.1086\/302418","article-title":"Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences","volume":"64","author":"Teraoka","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.jsbmb.2022.106191_bib37","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1159\/000452995","article-title":"Rapid molecular genetic diagnosis with next-generation sequencing in 46,XY disorders of sex development cases: efficiency and cost assessment","volume":"87","author":"\u00d6zen","year":"2017","journal-title":"Horm. Res. Paediatr."},{"key":"10.1016\/j.jsbmb.2022.106191_bib38","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1016\/j.gene.2012.03.031","article-title":"Duplication of exons 3-10 of the HSD17B3 gene: a novel type of genetic defect underlying 17\u03b2-HSD-3 deficiency","volume":"499","author":"Neocleous","year":"2012","journal-title":"Gene"},{"key":"10.1016\/j.jsbmb.2022.106191_bib39","doi-asserted-by":"crossref","first-page":"1069","DOI":"10.1016\/j.urology.2012.12.024","article-title":"Novel mutation among two sisters with 17\u03b2 hydroxysteroid dehydrogenase type 3 deficiency","volume":"81","author":"Massanyi","year":"2013","journal-title":"Urology"},{"key":"10.1016\/j.jsbmb.2022.106191_bib40","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1016\/j.jdermsci.2015.10.003","article-title":"Apparent homozygosity due to compound heterozygosity of one point mutation and an overlapping exon deletion mutation in ABCA12: a genetic diagnostic pitfall","volume":"80","author":"Shibata","year":"2015","journal-title":"J. Dermatol. Sci."},{"key":"10.1016\/j.jsbmb.2022.106191_bib41","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.steroids.2017.07.009","article-title":"Novel mutations of HSD17B3 in three Chinese patients with 46,XY disorders of sex development","volume":"126","author":"Yu","year":"2017","journal-title":"Steroids"}],"container-title":["The Journal of Steroid Biochemistry and Molecular Biology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S096007602200142X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S096007602200142X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T00:10:30Z","timestamp":1760746230000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S096007602200142X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1]]},"references-count":41,"alternative-id":["S096007602200142X"],"URL":"https:\/\/doi.org\/10.1016\/j.jsbmb.2022.106191","relation":{},"ISSN":["0960-0760"],"issn-type":[{"type":"print","value":"0960-0760"}],"subject":[],"published":{"date-parts":[[2023,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Lessons from 17\u03b2-HSD3 deficiency: Clinical spectrum and complex molecular basis in Chinese patients","name":"articletitle","label":"Article Title"},{"value":"The Journal of Steroid Biochemistry and Molecular Biology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jsbmb.2022.106191","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"106191"}}