{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,5]],"date-time":"2026-07-05T07:14:51Z","timestamp":1783235691111,"version":"3.54.6"},"reference-count":31,"publisher":"SAGE Publications","issue":"7","license":[{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"name":"Suzhou Children's Structural Anomaly Key Laboratory Construction Project","award":["SZS2022018"],"award-info":[{"award-number":["SZS2022018"]}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Int Med Res"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:sec>\n                    <jats:title>Context<\/jats:title>\n                    <jats:p>Deficiency of 17\u03b2-hydroxysteroid dehydrogenase type 3 (17\u03b2-HSD3) is a rare autosomal recessive disorder of sex development affecting individuals with a 46, XY karyotype. It is caused by pathogenic variants in the HSD17B3 gene that impair the conversion of \u03944-androstenedione to testosterone.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To evaluate the clinical presentation and management of a female patient who exhibited masculinization during puberty and assess her long-term life satisfaction during follow-up.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A female patient who exhibited masculinization during puberty underwent comprehensive endocrinological and genetic assessments. Subsequently, she underwent sex reassignment surgery and follow-up investigation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Hormonal findings showed a baseline testosterone\/androstenedione ratio of 1.77, which decreased to 1.32 after human chorionic gonadotropin stimulation; these findings are atypical for the diagnosis. Subsequently, compound heterozygous mutation p.I60\u2005T(c.179T\u2009&gt;\u2009C) and exon 1 deletion were identified. After extensive counseling, the patient\u2019s parents decided to reverse the patient\u2019s sex to male. Orchidopexy and two-stage urethroplasty were performed; histological evaluation demonstrated no malignancies of the testicular tissue. Follow-up after 1 year indicated that the patient was satisfied with their sex assignment.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The management of pediatric patients with rare 17\u03b2-HSD3 deficiency remains challenging. For patients diagnosed early, premature removal of the gonads is not recommended as the risk of malignancy is very low. Any decision must be carefully discussed within a multidisciplinary disorders of sex development team, together with the patient and their parents. Long-term follow-up is required to assess the impact of the chosen option on future quality of life.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/03000605261463063","type":"journal-article","created":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T12:17:30Z","timestamp":1782994650000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical management and genetic variation analysis of patients with 17\u03b2-hydroxysteroid dehydrogenase deficiency"],"prefix":"10.1177","volume":"54","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-7796-0469","authenticated-orcid":false,"given":"Li","family":"Tao","sequence":"first","affiliation":[{"name":"Children's Hospital of Soochow University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enfu","family":"Huang","sequence":"additional","affiliation":[{"name":"Children's Hospital of Soochow University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chao","family":"Wang","sequence":"additional","affiliation":[{"name":"Children's Hospital of Soochow University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tianyi","family":"Wang","sequence":"additional","affiliation":[{"name":"Children's Hospital of Soochow University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xueqian","family":"Wang","sequence":"additional","affiliation":[{"name":"Children's Hospital of Soochow University"},{"name":"Suzhou Clinical Center for Rare Diseases in Children, Children's Hospital of Soochow University, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rongrong","family":"Xie","sequence":"additional","affiliation":[{"name":"Children's Hospital of Soochow University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haiying","family":"Wu","sequence":"additional","affiliation":[{"name":"Children's Hospital of Soochow University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiangming","family":"Yan","sequence":"additional","affiliation":[{"name":"Children's Hospital of Soochow University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9374-5364","authenticated-orcid":false,"given":"Yun","family":"Zhou","sequence":"additional","affiliation":[{"name":"Children's Hospital of Soochow University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5882-9661","authenticated-orcid":false,"given":"Ting","family":"Zhang","sequence":"additional","affiliation":[{"name":"Children's Hospital of Soochow University"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,7,2]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1159\/000452637"},{"key":"e_1_3_2_3_2","volume":"118","author":"Lee PA","year":"2006","unstructured":"Lee PA, Houk CP, Ahmed SF, et al. Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics 2006; 118: e488\u2013e500.","journal-title":"Pediatrics"},{"key":"e_1_3_2_4_2","first-page":"495","article-title":"Seminoma in 46, XY gonadal dysgenesis: rare presentation and review of the literature","volume":"16","author":"Adra M","year":"2024","unstructured":"Adra M, Nakanishi H, Papachristodoulou E, et al. Seminoma in 46, XY gonadal dysgenesis: rare presentation and review of the literature. J Clin Res Pediatr Endocrinol 2024; 16: 495\u2013500.","journal-title":"J Clin Res Pediatr Endocrinol"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms231710026"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF03345572"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2008.10.040"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1159\/000336605"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2265.2000.01166.x"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41576-021-00365-5"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jsbmb.2017.08.012"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.2069"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1007\/s40618-020-01248-y"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2022.898876"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms232415555"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2014-0295"},{"key":"e_1_3_2_17_2","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 AL","year":"1999","unstructured":"Boehmer AL, Brinkmann AO, Sandkuijl LA, et al. 17beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations. J Clin Endocrinol Metab 1999; 84: 4713\u20134721.","journal-title":"J Clin Endocrinol Metab"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.4103\/aja.aja_36_20"},{"key":"e_1_3_2_19_2","first-page":"1124","article-title":"Clinical, genetic, and pathological analysis in 165 children with disorders of sex development]","volume":"25","author":"Cao YY","year":"2023","unstructured":"Cao YY, Zang KX, Liu YY, et al. [Clinical, genetic, and pathological analysis in 165 children with disorders of sex development]. Zhongguo Dang Dai Er Ke Za Zhi 2023; 25: 1124\u20131130.","journal-title":"Zhongguo Dang Dai Er Ke Za Zhi"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jsbmb.2023.106403"},{"key":"e_1_3_2_21_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02125448"},{"key":"e_1_3_2_22_2","doi-asserted-by":"publisher","DOI":"10.1093\/genetics\/167.3.1041"},{"key":"e_1_3_2_23_2","first-page":"455","article-title":"17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population","volume":"3","author":"Rosler A","year":"2006","unstructured":"Rosler A. 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population. Pediatr Endocrinol Rev 2006; 3: 455\u2013461.","journal-title":"Pediatr Endocrinol Rev"},{"key":"e_1_3_2_24_2","doi-asserted-by":"publisher","DOI":"10.1186\/1687-9856-2013-15"},{"key":"e_1_3_2_25_2","doi-asserted-by":"publisher","DOI":"10.1111\/cen.14694"},{"key":"e_1_3_2_26_2","doi-asserted-by":"publisher","DOI":"10.1159\/000442975"},{"key":"e_1_3_2_27_2","doi-asserted-by":"publisher","DOI":"10.1159\/000497400"},{"key":"e_1_3_2_28_2","doi-asserted-by":"publisher","DOI":"10.1096\/fj.202000361R"},{"key":"e_1_3_2_29_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2018.11.014"},{"key":"e_1_3_2_30_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jsbmb.2016.05.002"},{"key":"e_1_3_2_31_2","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2023.1267967"},{"key":"e_1_3_2_32_2","doi-asserted-by":"publisher","DOI":"10.1111\/and.14017"}],"container-title":["Journal of International Medical Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/03000605261463063","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/03000605261463063","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/03000605261463063","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,5]],"date-time":"2026-07-05T06:20:48Z","timestamp":1783232448000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/03000605261463063"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7]]},"references-count":31,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2026,7]]}},"alternative-id":["10.1177\/03000605261463063"],"URL":"https:\/\/doi.org\/10.1177\/03000605261463063","relation":{},"ISSN":["0300-0605","1473-2300"],"issn-type":[{"value":"0300-0605","type":"print"},{"value":"1473-2300","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7]]},"article-number":"03000605261463063"}}