{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,13]],"date-time":"2026-06-13T13:59:16Z","timestamp":1781359156696,"version":"3.54.1"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2025,5,17]],"date-time":"2025-05-17T00:00:00Z","timestamp":1747440000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,5,17]],"date-time":"2025-05-17T00:00:00Z","timestamp":1747440000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100002964","name":"\u00c7ukurova \u00dcniversitesi","doi-asserted-by":"publisher","award":["2023-15836"],"award-info":[{"award-number":["2023-15836"]}],"id":[{"id":"10.13039\/501100002964","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002964","name":"\u00c7ukurova \u00dcniversitesi","doi-asserted-by":"publisher","award":["2023-15836"],"award-info":[{"award-number":["2023-15836"]}],"id":[{"id":"10.13039\/501100002964","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002964","name":"\u00c7ukurova \u00dcniversitesi","doi-asserted-by":"publisher","award":["2023-15836"],"award-info":[{"award-number":["2023-15836"]}],"id":[{"id":"10.13039\/501100002964","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002964","name":"\u00c7ukurova \u00dcniversitesi","doi-asserted-by":"publisher","award":["2023-15836"],"award-info":[{"award-number":["2023-15836"]}],"id":[{"id":"10.13039\/501100002964","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Endocrine"],"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Purpose<\/jats:title>\n            <jats:p>Pathogenic variants in <jats:italic>SRD5A2<\/jats:italic> are a common cause of 46,XY disorders of sex development (DSDs). The aim of this study is to present the clinical, laboratory, and genetic characteristics of patients diagnosed with SRD5A2-associated 46,XY disorders of sex development (DSD), along with any decisions made regarding sex assignment. Furthermore, it also highlights the challenges encountered in sex assignment and the potential influence of social factors on how families adapt to these decisions.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>This retrospective, single-center study analyzed 29 DSD cases with 46,XY karyotypes, all of which were found to carry <jats:italic>SRD5A2<\/jats:italic> variants.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>The majority of the patients initially presented with female sex assignment (86.2%). The study identified a predominance of homozygous <jats:italic>SRD5A2<\/jats:italic> variants (93.1%) with the most common variant being p.Ala65Pro. Gender assignment decisions were made for 25 cases, with male gender assignment in 80% of cases. The parents of three adolescent athlete patients did not comply with the male gender decision and one of these patients was supported as a girl after the age of 18, with a corrective operation being subsequently performed. No patients underwent a gonadectomy before the age of 18.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>This study emphasizes the challenges in sex assignment for <jats:italic>SRD5A2<\/jats:italic>-associated DSD. Some XY DSD patients may have difficulty adhering to medical team guidance because of the negative impact of the patients in their families. When necessary, gender assessment committees should reevaluate DSD cases from a current perspective and reconsider their decisions.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1007\/s12020-025-04252-5","type":"journal-article","created":{"date-parts":[[2025,5,17]],"date-time":"2025-05-17T06:22:43Z","timestamp":1747462963000},"page":"632-640","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["An evaluation of cases of disorders of sex development related to SRD5A2"],"prefix":"10.1007","volume":"89","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5163-421X","authenticated-orcid":false,"given":"Can","family":"Celiloglu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5654-247X","authenticated-orcid":false,"given":"Ihsan","family":"Turan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6176-8986","authenticated-orcid":false,"given":"Leman Damla","family":"Kotan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-3506-3725","authenticated-orcid":false,"given":"Ay\u015fe Merve","family":"Cimen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2100-0301","authenticated-orcid":false,"given":"Semine Ozdemir","family":"Dilek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4378-3255","authenticated-orcid":false,"given":"Bilgin","family":"Yuksel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,5,17]]},"reference":[{"key":"4252_CR1","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1159\/000525119","volume":"16","author":"RL Batista","year":"2022","unstructured":"R.L. Batista, B.B. Mendonca, The molecular basis of 5\u03b1-reductase type 2 deficiency. Sex. Dev. 16, 171\u2013183 (2022). https:\/\/doi.org\/10.1159\/000525119.","journal-title":"Sex. Dev."},{"key":"4252_CR2","doi-asserted-by":"publisher","first-page":"R197","DOI":"10.1530\/EJE-18-0256","volume":"179","author":"L Aud\u00ed","year":"2018","unstructured":"L. Aud\u00ed, S.F. Ahmed, N. Krone, M. Cools, K. McElreavey, P.M. Holterhus, A. Greenfield, A. Bashamboo, O. Hiort, S.A. Wudy, R. McGowan, Genetics in endocrinology: approaches to molecular genetic diagnosis in the management of differences\/disorders of sex development (DSD): position paper of EU COST action BM 1303 \u2018DSDnet\u2019. Eur. J. Endocrinol. 179, R197\u2013R206 (2018). https:\/\/doi.org\/10.1530\/EJE-18-0256.","journal-title":"Eur. J. Endocrinol."},{"key":"4252_CR3","doi-asserted-by":"publisher","first-page":"153","DOI":"10.4274\/jcrpe.galenos.2022.2021-9-19","volume":"14","author":"N Akcan","year":"2022","unstructured":"N. Akcan, O. Uyguner, F. Ba\u015f, U. Altuno\u011flu, G. Toksoy, B. Karaman, \u015e Avc\u0131, Z. Yava\u015f Abal\u0131, \u015e Poyrazo\u011flu, A. Aghayev, V. Karaman, R. Bundak, S. Ba\u015faran, F. Darendeliler, Mutations in AR or SRD5A2 genes: clinical findings, endocrine pitfalls, and genetic features of children with 46,XY DSD. J. Clin. Res. Pediatr. Endocrinol. 14, 153\u2013171 (2022). https:\/\/doi.org\/10.4274\/jcrpe.galenos.2022.2021-9-19.","journal-title":"J. Clin. Res. Pediatr. Endocrinol."},{"key":"4252_CR4","doi-asserted-by":"publisher","first-page":"e526","DOI":"10.1111\/j.1365-2605.2010.01136.x","volume":"34","author":"M Fern\u00e1ndez-Cancio","year":"2011","unstructured":"M. Fern\u00e1ndez-Cancio, L. Aud\u00ed, P. Andaluz, N. Tor\u00e1n, C. Pir\u00f3, M. Albisu, M. Gussiny\u00e9, D. Yeste, M. Clemente, J. Mart\u00ednez-Mora, A. Blanco, M.L. Granada, M. Marco, J. Ferragut, J.P. L\u00f3pez-Siguero, M. Beneyto, C. Carles, A. Carrascosa, SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation. Int. J. Androl. 34, e526\u2013e535 (2011). https:\/\/doi.org\/10.1111\/j.1365-2605.2010.01136.x.","journal-title":"Int. J. Androl."},{"key":"4252_CR5","doi-asserted-by":"publisher","first-page":"375","DOI":"10.1111\/j.1365-2265.2005.02348.x","volume":"63","author":"A Nicoletti","year":"2005","unstructured":"A. Nicoletti, L. Baldazzi, A. Balsamo, L. Barp, P. Pirazzoli, M. Gennari, G. Radetti, E. Cacciari, A. Cicognani, SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects. Clin. Endocrinol. 63, 375\u2013380 (2005). https:\/\/doi.org\/10.1111\/j.1365-2265.2005.02348.x.","journal-title":"Clin. Endocrinol."},{"key":"4252_CR6","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1007\/s42000-018-0013-9","volume":"17","author":"A Avenda\u00f1o","year":"2018","unstructured":"A. Avenda\u00f1o, I. Paradisi, F. Cammarata-Scalisi, M. Callea, 5-\u03b1-Reductase type 2 deficiency: is there a genotype-phenotype correlation? a review. Hormones 17, 197\u2013204 (2018). https:\/\/doi.org\/10.1007\/s42000-018-0013-9.","journal-title":"Hormones"},{"key":"4252_CR7","doi-asserted-by":"publisher","first-page":"399","DOI":"10.1007\/s10508-005-4339-4","volume":"34","author":"PT Cohen-Kettenis","year":"2005","unstructured":"P.T. Cohen-Kettenis, Gender change in 46,XY persons with 5\u03b1-reductase-2 deficiency and 17\u03b2-hydroxysteroid dehydrogenase-3 deficiency. Arch. Sex. Behav. 34, 399\u2013410 (2005). https:\/\/doi.org\/10.1007\/s10508-005-4339-4.","journal-title":"Arch. Sex. Behav."},{"key":"4252_CR8","doi-asserted-by":"publisher","first-page":"592","DOI":"10.1111\/ped.14447","volume":"63","author":"A Konishi","year":"2021","unstructured":"A. Konishi, S. Ida, F. Matsui, Y. Etani, M. Kawai, Male assignment in 5\u03b1-reductase type 2 deficiency with female external genitalia. Pediatr Int. 63, 592\u2013594 (2021). https:\/\/doi.org\/10.1111\/ped.14447.","journal-title":"Pediatr Int."},{"key":"4252_CR9","doi-asserted-by":"publisher","first-page":"394","DOI":"10.1111\/bju.15369","volume":"129","author":"TC van de Grift","year":"2022","unstructured":"T.C. van de Grift, M. Rapp, G. Holmdahl, L. Duranteau, A. Nordenskjold, B. Kohler, U. Neumann, P. Cohen-Kettenis, B. Kreukels, A. de Vries, W. Arlt, C. Wiesemann, J. Slowikowska-Hilczer, U. Thyen, M. Rapp, A.B. de la Perriere, C. Sultan, F. Paris, N. Reisch, A. Richter-Unruh, H. Claahsen\u2013van der Grinten, C. Bouvattier, L. Duranteau, A. Nordenstr\u00f6m, A. Nordenskj\u00f6ld, C. Pienkowski, M. Szarras-Czapnik, Masculinizing surgery in disorders\/differences of sex development: clinician- and participant-evaluated appearance and function. BJU Int. 129, 394\u2013405 (2022). https:\/\/doi.org\/10.1111\/bju.15369.","journal-title":"BJU Int."},{"key":"4252_CR10","doi-asserted-by":"publisher","first-page":"683.e1","DOI":"10.1016\/j.jpurol.2022.07.008","volume":"18","author":"SH Williamson","year":"2022","unstructured":"S.H. Williamson, C.A. Davis-Dao, K.H. Huen, L. Ehwerhemuepha, K. Chuang, H.A. Stephany, E.J. Wehbi, Z.N. Kain, Timely orchiopexy by 18 months of age: are we meeting the standards defined by the 2014 AUA guidelines?. J. Pediatr. Urol. 18, 683.e1\u2013683.e7 (2022). https:\/\/doi.org\/10.1016\/j.jpurol.2022.07.008.","journal-title":"J. Pediatr. Urol."},{"key":"4252_CR11","doi-asserted-by":"publisher","first-page":"e222","DOI":"10.1210\/clinem\/dgz142","volume":"105","author":"S van der Straaten","year":"2020","unstructured":"S. van der Straaten, A. Springer, A. Zecic, D. Hebenstreit, U. Tonnhofer, A. Gawlik, M. Baumert, K. Szeliga, S. Debulpaep, A. Desloovere, L. Tack, K. Smets, M. Wasniewska, D. Corica, M. Calafiore, M.L. Ljubicic, A.S. Busch, A. Juul, A. Nordenstr\u00f6m, J. Sigurdsson, C.E. Fl\u00fcck, T. Haamberg, S. Graf, S.E. Hannema, K.P. Wolffenbuttel, O. Hiort, S.F. Ahmed, M. Cools, The external genitalia score (EGS): a European multicenter validation study. J. Clin. Endocrinol. Metab. 105, e222\u2013e230 (2020). https:\/\/doi.org\/10.1210\/clinem\/dgz142.","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"4252_CR12","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1210\/edrv-16-3-271","volume":"16","author":"CA Quigley","year":"1995","unstructured":"C.A. Quigley, A. De Bellis, K.B. Marschke, M.K. el-Awady, E.M. Wilson, F.S. French, Androgen receptor defects: historical, clinical, and molecular perspectives. Endocr. Rev. 16, 271\u2013321 (1995). https:\/\/doi.org\/10.1210\/edrv-16-3-271.","journal-title":"Endocr. Rev."},{"key":"4252_CR13","doi-asserted-by":"publisher","first-page":"e2026076118","DOI":"10.1073\/pnas.2026076118","volume":"118","author":"ME Kars","year":"2021","unstructured":"M.E. Kars, A.N. Ba\u015fak, O.E. Onat, K. Bilguvar, J. Choi, Y. Itan, C. \u00c7a\u011flar, R. Palvadeau, J.-L. Casanova, D.N. Cooper, P.D. Stenson, A. Yavuz, H. Bulu\u015f, M. G\u00fcnel, J.M. Friedman, T. \u00d6z\u00e7elik, The genetic structure of the Turkish population reveals high levels of variation and admixture. Proc. Natl Acad. Sci. 118, e2026076118 (2021). https:\/\/doi.org\/10.1073\/pnas.2026076118.","journal-title":"Proc. Natl Acad. Sci."},{"key":"4252_CR14","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"S. Richards, N. Aziz, S. Bale, D. Bick, S. Das, J. Gastier-Foster, W.W. Grody, M. Hegde, E. Lyon, E. Spector, K. Voelkerding, H.L. Rehm, 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. Genet. Med. 17, 405\u2013424 (2015). https:\/\/doi.org\/10.1038\/gim.2015.30.","journal-title":"Genet. Med."},{"key":"4252_CR15","first-page":"185","volume":"10","author":"NE Allen","year":"2001","unstructured":"N.E. Allen, M.S. Forrest, T.J. Key, The association between polymorphisms in the CYP17 and 5alpha-reductase (SRD5A2) genes and serum androgen concentrations in men. Cancer Epidemiol. Biomark. Prev. 10, 185\u2013189 (2001).","journal-title":"Cancer Epidemiol. Biomark. Prev."},{"key":"4252_CR16","doi-asserted-by":"publisher","first-page":"e220227","DOI":"10.1530\/EC-22-0227","volume":"12","author":"E Bonnet","year":"2023","unstructured":"E. Bonnet, M. Winter, D. Mallet, I. Plotton, C. Bouvattier, M. Cartigny, L. Martinerie, M. Polak, A. Bachelot, F. Huet, S. Baron, M. Houang, S. Soskin, A. Lienhardt, J. Bertherat, C. Amouroux, A. Bouty, L. Duranteau, R. Besson, A. El Ghoneimi, D. Samara-Boustani, F. Becmeur, N. Kalfa, F. Paris, F. Medjkane, A. Brac de la Perri\u00e8re, P. Bretones, H. Lejeune, M. Nicolino, P. Mouriquand, D.-B. Gorduza, C.-L. Gay, Changes in the clinical management of 5\u03b1-reductase type 2 and 17\u03b2-hydroxysteroid dehydrogenase type 3 deficiencies in France. Endocr. Connect. 12, e220227 (2023). https:\/\/doi.org\/10.1530\/EC-22-0227.","journal-title":"Endocr. Connect."},{"key":"4252_CR17","doi-asserted-by":"publisher","first-page":"83","DOI":"10.2147\/TACG.S198178","volume":"13","author":"RL Batista","year":"2020","unstructured":"R.L. Batista, B.B. Mendonca, Integrative and analytical review of the 5-alpha-reductase type 2 deficiency worldwide. Appl. Clin. Genet. 13, 83\u201396 (2020). https:\/\/doi.org\/10.2147\/TACG.S198178.","journal-title":"Appl. Clin. Genet."},{"key":"4252_CR18","doi-asserted-by":"publisher","first-page":"296","DOI":"10.1210\/jc.2010-1024","volume":"96","author":"L Maimoun","year":"2011","unstructured":"L. Maimoun, P. Philibert, B. Cammas, F. Audran, P. Bouchard, P. Fenichel, M. Cartigny, C. Pienkowski, M. Polak, N. Skordis, I. Mazen, G. Ocal, M. Berberoglu, R. Reynaud, C. Baumann, S. Cabrol, D. Simon, K. Kayemba-Kay\u2019s, M. De Kerdanet, F. Kurtz, B. Leheup, C. Heinrichs, S. Tenoutasse, G. Van Vliet, A. Gr\u00fcters, M. Eunice, A.C. Ammini, M. Hafez, Z. Hochberg, S. Einaudi, H. Al Mawlawi, C.J. del Valle Nu\u00f1ez, N. Servant, S. Lumbroso, F. Paris, C. Sultan, Phenotypical, biological, and molecular heterogeneity of 5\u03b1-reductase deficiency: an extensive international experience of 55 patients. J. Clin. Endocrinol. Metab. 96, 296\u2013307 (2011). https:\/\/doi.org\/10.1210\/jc.2010-1024.","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"4252_CR19","doi-asserted-by":"publisher","first-page":"572","DOI":"10.1111\/j.2047-2927.2014.00215.x","volume":"2","author":"T Akcay","year":"2014","unstructured":"T. Akcay, M. Fernandez-Cancio, S. Turan, T. G\u00fcran, L. Audi, A. Bereket, AR and SRD5A2 gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity. Andrology 2, 572\u2013578 (2014). https:\/\/doi.org\/10.1111\/j.2047-2927.2014.00215.x.","journal-title":"Andrology"},{"key":"4252_CR20","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2019.103782","volume":"63","author":"I Turan","year":"2020","unstructured":"I. Turan, M. Tastan, D.D. Boga, F. Gurbuz, L.D. Kotan, A. Tuli, B. Y\u00fcksel, 21-hydroxylase deficiency: mutational spectrum and genotype\u2013phenotype relations analyses by next-generation sequencing and multiplex ligation-dependent probe amplification. Eur. J. Med. Genet. 63, 103782 (2020). https:\/\/doi.org\/10.1016\/j.ejmg.2019.103782.","journal-title":"Eur. J. Med. Genet."},{"key":"4252_CR21","doi-asserted-by":"publisher","first-page":"798","DOI":"10.1373\/clinchem.2012.196501","volume":"59","author":"AOK Chan","year":"2013","unstructured":"A.O.K. Chan, B.W.M. But, C.Y. Lee, Y.Y. Lam, K.L. Ng, J.Y.L. Tung, E.Y.W. Kwan, Y.K. Chan, T.K.C. Tsui, A.L.N. Lam, W.Y. Tse, P.T. Cheung, C.C. Shek, Diagnosis of 5\u03b1-reductase 2 deficiency: is measurement of dihydrotestosterone essential?. Clin. Chem. 59, 798\u2013806 (2013). https:\/\/doi.org\/10.1373\/clinchem.2012.196501.","journal-title":"Clin. Chem."},{"key":"4252_CR22","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1155\/2019\/7676341","volume":"2019","author":"NS Marzuki","year":"2019","unstructured":"N.S. Marzuki, F.P. Idris, H.D. Kartapradja, A.R. Harahap, J.R.L. Batubara, Characterising SRD5A2 gene variants in 37 Indonesian patients with 5-alpha-reductase type 2 deficiency. Int. J. Endocrinol. 2019, 1\u201310 (2019). https:\/\/doi.org\/10.1155\/2019\/7676341.","journal-title":"Int. J. Endocrinol."},{"key":"4252_CR23","doi-asserted-by":"publisher","first-page":"e1431","DOI":"10.1002\/mgg3.1431","volume":"8","author":"L Fan","year":"2020","unstructured":"L. Fan, Y. Song, M. Polak, L. Li, X. Ren, B. Zhang, D. Wu, C. Gong, Clinical characteristics and genotype-phenotype correlations of 130 Chinese children in a high-homogeneity single-center cohort with 5\u03b1-reductase 2 deficiency. Mol. Genet. Genom. Med. 8, e1431 (2020). https:\/\/doi.org\/10.1002\/mgg3.1431.","journal-title":"Mol. Genet. Genom. Med."},{"key":"4252_CR24","doi-asserted-by":"publisher","first-page":"518","DOI":"10.1111\/cen.12799","volume":"83","author":"J Cheng","year":"2015","unstructured":"J. Cheng, R. Lin, W. Zhang, G. Liu, H. Sheng, X. Li, Z. Zhou, X. Mao, L. Liu, Phenotype and molecular characteristics in 45 Chinese children with 5\u03b1-reductase type 2 deficiency from South China. Clin. Endocrinol. 83, 518\u2013526 (2015). https:\/\/doi.org\/10.1111\/cen.12799.","journal-title":"Clin. Endocrinol."},{"key":"4252_CR25","doi-asserted-by":"publisher","first-page":"453","DOI":"10.1007\/s40618-018-0940-y","volume":"42","author":"A Abac\u0131","year":"2019","unstructured":"A. Abac\u0131, G. \u00c7atl\u0131, \u00d6 K\u0131rb\u0131y\u0131k, N.M. \u015eahin, Z.Y. Abal\u0131, E. \u00dcnal, Z. \u015e\u0131klar, E. Mengen, S. \u00d6zen, T. G\u00fcran, C. Kara, M. Y\u0131ld\u0131z, E. Eren, \u00d6 Nalbanto\u011flu, A. G\u00fcven, A. \u00c7ay\u0131r, E.D. Akba\u015f, Y. Kor, Y. \u00c7\u00fcrek, Z. Aycan, F. Ba\u015f, \u015e Darcan, M. Berbero\u011flu, Genotype\u2013phenotype correlation, gonadal malignancy risk, gender preference, and testosterone\/dihydrotestosterone ratio in steroid 5-alpha-reductase type 2 deficiency: a multicenter study from Turkey. J. Endocrinol. Invest. 42, 453\u2013470 (2019). https:\/\/doi.org\/10.1007\/s40618-018-0940-y.","journal-title":"J. Endocrinol. Invest."},{"key":"4252_CR26","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1159\/000445090","volume":"10","author":"S Bertelloni","year":"2016","unstructured":"S. Bertelloni, F. Baldinotti, G. Russo, P. Ghirri, E. Dati, A. Michelucci, F. Moscuzza, S. Meroni, I. Colombo, M.R. Sessa, G.I. Baroncelli, 5\u03b1-reductase-2 deficiency: clinical findings, endocrine pitfalls, and genetic features in a large Italian cohort. Sex. Dev. 10, 28\u201336 (2016). https:\/\/doi.org\/10.1159\/000445090.","journal-title":"Sex. Dev."},{"key":"4252_CR27","doi-asserted-by":"publisher","first-page":"1666","DOI":"10.1002\/ajmg.a.62129","volume":"185","author":"I Mazen","year":"2021","unstructured":"I. Mazen, M. Mekkawy, A. Kamel, M. Essawi, H. Hassan, M. Abdel-Hamid, K. Amr, H. Soliman, M. El-Ruby, A. Torky, M. El Gammal, A. Elaidy, A. Bashamboo, K. McElreavey, Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development. Am. J. Med. Genet. A 185, 1666\u20131677 (2021). https:\/\/doi.org\/10.1002\/ajmg.a.62129.","journal-title":"Am. J. Med. Genet. A"},{"key":"4252_CR28","doi-asserted-by":"publisher","first-page":"1547","DOI":"10.1210\/er.2019-00049","volume":"40","author":"AB Wisniewski","year":"2019","unstructured":"A.B. Wisniewski, R.L. Batista, E.M.F. Costa, C. Finlayson, M.H.P. Sircili, F.T. D\u00e9nes, S. Domenice, B.B. Mendonca, Management of 46,XY differences\/disorders of sex development (dsd) throughout life. Endocr. Rev. 40, 1547\u20131572 (2019). https:\/\/doi.org\/10.1210\/er.2019-00049.","journal-title":"Endocr. Rev."},{"key":"4252_CR29","doi-asserted-by":"publisher","first-page":"347","DOI":"10.4274\/jcrpe.galenos.2020.2020.0009","volume":"12","author":"F G\u00fcrb\u00fcz","year":"2020","unstructured":"F. G\u00fcrb\u00fcz, M. Alkan, G. \u00c7elik, A. Bi\u015fgin, N. \u00c7ekin, \u0130 \u00dcnal, A.K. Topalo\u011flu, \u00dc Zorludemir, A. Avc\u0131, B. Y\u00fcksel, Gender identity and assignment recommendations in disorders of sex development patients: 20 years\u2019 experience and challenges. J. Clin. Res. Pediatr. Endocrinol. 12, 347\u2013357 (2020). https:\/\/doi.org\/10.4274\/jcrpe.galenos.2020.2020.0009.","journal-title":"J. Clin. Res. Pediatr. Endocrinol."},{"key":"4252_CR30","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1007\/s40279-020-01389-3","volume":"51","author":"EN Hilton","year":"2021","unstructured":"E.N. Hilton, T.R. Lundberg, Transgender women in the female category of sport: perspectives on testosterone suppression and performance advantage. Sports Med. 51, 199\u2013214 (2021). https:\/\/doi.org\/10.1007\/s40279-020-01389-3.","journal-title":"Sports Med."}],"container-title":["Endocrine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12020-025-04252-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12020-025-04252-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12020-025-04252-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,24]],"date-time":"2025-07-24T15:11:26Z","timestamp":1753369886000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12020-025-04252-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,17]]},"references-count":30,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2025,8]]}},"alternative-id":["4252"],"URL":"https:\/\/doi.org\/10.1007\/s12020-025-04252-5","relation":{},"ISSN":["1559-0100"],"issn-type":[{"value":"1559-0100","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,5,17]]},"assertion":[{"value":"18 February 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 April 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 May 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"The study was approved by the Local Ethics Committee (Cukurova University Faculty of Medicine, Adana-Turkey) with decision number 2022\/127.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"Informed consent was obtained from legal guardians.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"The authors affirm that human research participants provided informed consent for publication of the social\/sports data of Family A members.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to publish"}}]}}