{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T16:03:02Z","timestamp":1790352182925,"version":"4.1.0"},"reference-count":46,"publisher":"Walter de Gruyter GmbH","issue":"9","license":[{"start":{"date-parts":[[2025,8,7]],"date-time":"2025-08-07T00:00:00Z","timestamp":1754524800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100018952","name":"NIHR Birmingham Biomedical Research Centre","doi-asserted-by":"publisher","award":["Women\u2019s Metabolic Health Theme"],"award-info":[{"award-number":["Women\u2019s Metabolic Health Theme"]}],"id":[{"id":"10.13039\/501100018952","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000691","name":"Academy of Medical Sciences","doi-asserted-by":"crossref","award":["SGL020_1013"],"award-info":[{"award-number":["SGL020_1013"]}],"id":[{"id":"10.13039\/501100000691","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,9,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2025-0195_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Precise and timely diagnosis is essential in the management of children born with atypical genitalia\/differences or disorders of sex development (DSD) to provide optimal personalised care. Establishing the diagnosis can be challenging and time-consuming. The human chorionic gonadotrophin (hCG) stimulation test is useful in assessing male gonadal function, and stimulated testosterone: 5\u03b1-dihydrotestosterone (T:DHT)&gt;10 suggests 5-alpha reductase type 2 (SRD5A2) deficiency. <\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2025-0195_abs_002\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We report the clinical, hormonal and genetic data of patients with 46, XY DSD with genetically confirmed SRD5A2 deficiency to assess the value of the hCG-stimulated T:DHT ratio in the diagnostic work-up. Additionally, we reviewed the literature on the usefulness of hCG-stimulated androgen ratios in determining DSD aetiology.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2025-0195_abs_003\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Of 14 patients with genetically confirmed SRD5A2 deficiency, including one novel variant, nine underwent hCG stimulation test: seven in infancy, one at 4\u00a0years and one at puberty. A T:DHT ratio above 10 was observed in seven patients (median: 15; range: 10.7\u201366.5). Two patients, aged one month and 4\u00a0years, had ratios of 8.3 and 4.4, respectively. Urinary steroid profiling (GC\/MS) suggested SRD5A2 deficiency in all patients who had the testing (n=13). No association was found between T:DHT ratios and age at presentation or external masculinisation score (EMS).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2025-0195_abs_004\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>The hCG stimulation test appears less sensitive than urinary steroid profiling in establishing the diagnosis of SRD5A2 deficiency.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2025-0195","type":"journal-article","created":{"date-parts":[[2025,8,6]],"date-time":"2025-08-06T13:57:17Z","timestamp":1754488637000},"page":"922-930","source":"Crossref","is-referenced-by-count":2,"title":["The diagnostic value of stimulated androgen ratios in 5-alpha reductase type 2 (SRD5A2) deficiency: a case series and review of the literature"],"prefix":"10.1515","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3015-4161","authenticated-orcid":false,"given":"Chamila","family":"Balagamage","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Diabetes , 573600 Birmingham Women\u2019s and Children\u2019s NHS Foundation Trust , Birmingham , UK"},{"name":"Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners , University of Birmingham , Birmingham , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Igbokwe","sequence":"additional","affiliation":[{"name":"Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners , University of Birmingham , Birmingham , UK"},{"name":"Department of Clinical Genetics , Birmingham Women\u2019s and Children\u2019s NHS Foundation Trust , Birmingham , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Trevor","family":"Cole","sequence":"additional","affiliation":[{"name":"Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners , University of Birmingham , Birmingham , UK"},{"name":"Department of Clinical Genetics , Birmingham Women\u2019s and Children\u2019s NHS Foundation Trust , Birmingham , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth S.","family":"Baranowski","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetes , 573600 Birmingham Women\u2019s and Children\u2019s NHS Foundation Trust , Birmingham , UK"},{"name":"Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners , University of Birmingham , Birmingham , UK"},{"name":"Department of Metabolism and Systems Science, School of Medical Sciences , College of Medicine and Health, University of Birmingham , Birmingham , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liam","family":"McCarthy","sequence":"additional","affiliation":[{"name":"Department of Paediatric Urology , Birmingham Women\u2019s and Children\u2019s NHS Foundation Trust , Birmingham , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harish","family":"Chandran","sequence":"additional","affiliation":[{"name":"Department of Paediatric Urology , Birmingham Women\u2019s and Children\u2019s NHS Foundation Trust , Birmingham , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elmarie","family":"Van Der Merwe","sequence":"additional","affiliation":[{"name":"Department of Paediatric Urology , Birmingham Women\u2019s and Children\u2019s NHS Foundation Trust , Birmingham , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piers","family":"Fulton","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics , Birmingham Women\u2019s and Children\u2019s NHS Foundation Trust , Birmingham , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Godber","sequence":"additional","affiliation":[{"name":"Department of Clinical Psychology , Birmingham Women\u2019s and Children\u2019s NHS Foundation Trust , Birmingham , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeremy","family":"Kirk","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetes , 573600 Birmingham Women\u2019s and Children\u2019s NHS Foundation Trust , Birmingham , UK"},{"name":"Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners , University of Birmingham , Birmingham , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zainaba","family":"Mohamed","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetes , 573600 Birmingham Women\u2019s and Children\u2019s NHS Foundation Trust , Birmingham , UK"},{"name":"Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners , University of Birmingham , Birmingham , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9181-3995","authenticated-orcid":false,"given":"Jan","family":"Idkowiak","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetes , 573600 Birmingham Women\u2019s and Children\u2019s NHS Foundation Trust , Birmingham , UK"},{"name":"Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners , University of Birmingham , Birmingham , UK"},{"name":"Department of Metabolism and Systems Science, School of Medical Sciences , College of Medicine and Health, University of Birmingham , Birmingham , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2025,8,7]]},"reference":[{"key":"2025091715550571545_j_jpem-2025-0195_ref_001","doi-asserted-by":"crossref","unstructured":"Liu, Q, Yin, X, Li, P. Clinical, hormonal, and genetic characteristics of 5\u03b1-reductase type 2 deficiency in 103 Chinese patients. Endocr Pract 2022;28:859\u201366. https:\/\/doi.org\/10.1016\/j.eprac.2022.06.002.","DOI":"10.1016\/j.eprac.2022.06.002"},{"key":"2025091715550571545_j_jpem-2025-0195_ref_002","doi-asserted-by":"crossref","unstructured":"Marchetti, PM, Barth, JH. Clinical biochemistry of dihydrotestosterone. Ann Clin Biochem 2013;50:95\u2013107. https:\/\/doi.org\/10.1258\/acb.2012.012159.","DOI":"10.1258\/acb.2012.012159"},{"key":"2025091715550571545_j_jpem-2025-0195_ref_003","doi-asserted-by":"crossref","unstructured":"Azzouni, F, Godoy, A, Li, Y, Mohler, J. The 5 alpha-reductase isozyme family: a review of basic biology and their role in human diseases. 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Arch Dis Child 1999;80:324\u20139. https:\/\/doi.org\/10.1136\/adc.80.4.324.","DOI":"10.1136\/adc.80.4.324"},{"key":"2025091715550571545_j_jpem-2025-0195_ref_028","doi-asserted-by":"crossref","unstructured":"Ko, JM, Cheon, CK, Kim, GH, Kim, SH, Kim, KS, Yoo, HW. Clinical characterization and analysis of the SRD5A2 gene in six Korean patients with 5\u03b1-reductase type 2 deficiency. Horm Res Paediatr 2010;73:41\u20138. https:\/\/doi.org\/10.1159\/000271915.","DOI":"10.1159\/000271915"},{"key":"2025091715550571545_j_jpem-2025-0195_ref_029","doi-asserted-by":"crossref","unstructured":"Baldinotti, F, Majore, S, Fogli, A, Marrocco, G, Ghirri, P, Vuerich, M, et al.. Molecular characterization of 6 unrelated Italian patients with 5\u03b1-reductase type 2 deficiency. J\u00a0Androl 2008;29:20\u20138. https:\/\/doi.org\/10.2164\/jandrol.107.002592.","DOI":"10.2164\/jandrol.107.002592"},{"key":"2025091715550571545_j_jpem-2025-0195_ref_030","doi-asserted-by":"crossref","unstructured":"Hiort, O, Willenbring, H, Albers, N, Hecker, W, Engert, J, Dibbelt, L, et al.. Molecular genetic analysis and human chorionic gonadotropin stimulation tests in the diagnosis of prepubertal patients with partial 5\u03b1-reductase deficiency. Eur J Pediatr 1996;155:445\u201351. https:\/\/doi.org\/10.1007\/bf01955179.","DOI":"10.1007\/BF01955179"},{"key":"2025091715550571545_j_jpem-2025-0195_ref_031","doi-asserted-by":"crossref","unstructured":"Veiga, NN, Medaets, PAR, Petroli, RJ, Calais, FL, De Mello, MP, De Sousa Castro, CCT, et al.. Clinical and laboratorial features that may differentiate 46,XY DSD due to partial androgen insensitivity and 5\u03b1-reductase type 2 deficiency. Int J Endocrinol 2012;2012. https:\/\/doi.org\/10.1155\/2012\/964876.","DOI":"10.1155\/2012\/964876"},{"key":"2025091715550571545_j_jpem-2025-0195_ref_032","doi-asserted-by":"crossref","unstructured":"Topcu, V, Ilgin-Ruhi, H, Siklar, Z, Karabulut, HG, Berberoglu, M, Hacihamdioglu, B, et al.. Investigation of androgen receptor gene mutations in a series of 21 patients with 46,XY disorders of sex development. J\u00a0Pediatr Endocrinol Metab 2015;28:1257\u201363. https:\/\/doi.org\/10.1515\/jpem-2014-0500.","DOI":"10.1515\/jpem-2014-0500"},{"key":"2025091715550571545_j_jpem-2025-0195_ref_033","doi-asserted-by":"crossref","unstructured":"Akcay, T, Fernandez-Cancio, M, Turan, S, G\u00fcran, T, Audi, L, Bereket, A. AR and SRD5A2 gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity. Andrology 2014;2:572\u20138. https:\/\/doi.org\/10.1111\/j.2047-2927.2014.00215.x.","DOI":"10.1111\/j.2047-2927.2014.00215.x"},{"key":"2025091715550571545_j_jpem-2025-0195_ref_034","doi-asserted-by":"crossref","unstructured":"Berra, M, Williams, EL, Muroni, B, Creighton, SM, Honour, JW, Rumsby, G, et al.. Recognition of 5\u03b1-reductase-2 deficiency in an adult female 46XY DSD clinic. Eur J Endocrinol 2011;164:1019\u201325. https:\/\/doi.org\/10.1530\/eje-10-0930.","DOI":"10.1530\/EJE-10-0930"},{"key":"2025091715550571545_j_jpem-2025-0195_ref_035","doi-asserted-by":"crossref","unstructured":"Shackleton, CHL, Honour, JW, Taylor, NF, Philip, R. Metabolism of fetal and neonatal adrenal steroids. J\u00a0Steroid Biochem 1979;11:523\u20139. https:\/\/doi.org\/10.1016\/b978-0-08-023796-1.50077-3.","DOI":"10.1016\/0022-4731(79)90077-3"},{"key":"2025091715550571545_j_jpem-2025-0195_ref_036","doi-asserted-by":"crossref","unstructured":"Ahmed, SF, Bashamboo, A, Lucas-Herald, A, McElreavey, K. 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Horm Res Paediatr 2017;87:81\u20137. https:\/\/doi.org\/10.1159\/000452995.","DOI":"10.1159\/000452995"},{"key":"2025091715550571545_j_jpem-2025-0195_ref_041","doi-asserted-by":"crossref","unstructured":"Mazen, I, Gad, YZ, Hafez, M, Sultan, C, Lumbroso, S. Molecular analysis of 5\u03b1-reductase type 2 gene in eight unrelated Egyptian children with suspected 5\u03b1-reductase deficiency: prevalence of the G34R mutation. Clin Endocrinol 2003;58:627\u201331. https:\/\/doi.org\/10.1046\/j.1365-2265.2003.01763.x.","DOI":"10.1046\/j.1365-2265.2003.01763.x"},{"key":"2025091715550571545_j_jpem-2025-0195_ref_042","doi-asserted-by":"crossref","unstructured":"Vilchis, F, Ramos, L, M\u00e9ndez, JP, Benavides, S, Canto, P, Ch\u00e1vez, B. Molecular analysis of the SRD5A2 in 46,XY subjects with incomplete virilization: the P212R substitution of the steroid 5\u03b1-reductase 2 may constitute an ancestral founder mutation in Mexican patients. J\u00a0Androl 2010;31:358\u201364. https:\/\/doi.org\/10.2164\/jandrol.109.009407.","DOI":"10.2164\/jandrol.109.009407"},{"key":"2025091715550571545_j_jpem-2025-0195_ref_043","doi-asserted-by":"crossref","unstructured":"Ch\u00e1vez, B, Valdez, E, Vilchis, F. Uniparental disomy in steroid 5\u03b1-reductase 2 deficiency. J\u00a0Clin Endocrinol Metab 2000;85:3147\u201350. https:\/\/doi.org\/10.1210\/jc.85.9.3147.","DOI":"10.1210\/jcem.85.9.6786"},{"key":"2025091715550571545_j_jpem-2025-0195_ref_044","doi-asserted-by":"crossref","unstructured":"Russo, G, di Lascio, A, Ferrario, M, Meroni, S, Hiort, O, Chiumello, G. 46,XY karyotype in a female phenotype fetus: a challenging diagnosis. J\u00a0Pediatr Adolesc Gynecol 2012;25. https:\/\/doi.org\/10.1016\/j.jpag.2012.03.001.","DOI":"10.1016\/j.jpag.2012.03.001"},{"key":"2025091715550571545_j_jpem-2025-0195_ref_045","doi-asserted-by":"crossref","unstructured":"Sahu, R, Boddula, R, Sharma, P, Bhatia, V, Greaves, R, Rao, S, et al.. Genetic analysis of the SRD5A2 gene in Indian patients with 5\u03b1-reductase deficiency. J\u00a0Pediatr Endocrinol Metab 2009;22. https:\/\/doi.org\/10.1515\/jpem.2009.22.3.247.","DOI":"10.1515\/JPEM.2009.22.3.247"},{"key":"2025091715550571545_j_jpem-2025-0195_ref_046","doi-asserted-by":"crossref","unstructured":"Han, B, Cheng, T, Zhu, H, Yu, J, Zhu, WJ, Song, HD, et al.. Genetic analysis of 25 patients with 5\u03b1-reductase deficiency in Chinese population. 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