{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T23:26:17Z","timestamp":1793057177497,"version":"4.5.0"},"reference-count":51,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2025,1,9]],"date-time":"2025-01-09T00:00:00Z","timestamp":1736380800000},"content-version":"vor","delay-in-days":8,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"I-DSD Registry project"},{"DOI":"10.13039\/100014593","name":"Neurocrine Biosciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007155","name":"Medical Research Council","doi-asserted-by":"publisher","award":["G1100236"],"award-info":[{"award-number":["G1100236"]}],"id":[{"id":"10.13039\/501100007155","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Seventh European Union Framework Program","award":["201444"],"award-info":[{"award-number":["201444"]}]},{"DOI":"10.13039\/100010381","name":"European Society for Paediatric Endocrinology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010381","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,1,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>17\u03b2-Hydroxysteroid dehydrogenase 3 deficiency (17\u03b2-HSDD) and 5\u03b1-reductase type 2 deficiency (5\u03b1-RD) are rare 46,XY differences of sex development (DSD). This study aims to enlarge the limited knowledge on long-term gonadal function and gonadal pathology in these conditions.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Design<\/jats:title>\n                  <jats:p>Retrospective multicentre cohort study.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Data on phenotype, laboratory results, and hormone treatment were collected from patients aged \u226516 years at time of data collection with genetically confirmed 17\u03b2-HSDD and 5\u03b1-RD from 10 centres via the I-DSD Registry. If gonadectomy or gonadal biopsy had been performed, pathology reports and\/or gonadal tissue or images were collected.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>All 16 patients with 17\u03b2-HSDD were raised female; 1 (6%) changed to male gender at age 14. Three females were treated with gonadotrophin-releasing hormone agonists (GnRHa) to prevent virilisation. Thirteen underwent gonadectomy at median age 8 (range 0-17). None had germ cell (pre)malignancies. Of 14 patients with 5\u03b1-RD, 10 (71%) were raised female. Five changed gender at age 7-23, of whom 4 to male gender. One was treated with GnRHa. Six underwent gonadectomy at median age 10 (range 0-31). None had germ cell (pre)malignancies. With gonads in situ, puberty spontaneously progressed. Three were treated with dihydrotestosterone.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>A significant percentage of individuals with 17\u03b2-HSDD and 5\u03b1-RD changed gender, and some were treated with GnRHa to prevent virilisation before making a definitive decision about gonadectomy. When left in situ, spontaneous puberty occurs and germ cell (pre)malignancies seem uncommon at least until early adulthood. Together, these data support delaying a decision about gonadectomy until late adolescence in these conditions.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ejendo\/lvae154","type":"journal-article","created":{"date-parts":[[2025,1,9]],"date-time":"2025-01-09T10:36:19Z","timestamp":1736418979000},"page":"34-45","source":"Crossref","is-referenced-by-count":6,"title":["Gonadal function and pathology in 17beta-HSD 3 and 5alpha-reductase deficiency"],"prefix":"10.1093","volume":"192","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0952-9168","authenticated-orcid":false,"given":"Lidewij S","family":"Boogers","sequence":"first","affiliation":[{"name":"Department of Paediatric Endocrinology, Erasmus University Medical Centre , 3015 GD Rotterdam ,","place":["The Netherlands"]},{"name":"Department of Paediatric Endocrinology, Amsterdam UMC location Vrije Universiteit Amsterdam , 1105 AZ Amsterdam ,","place":["The 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,","place":["Turkey"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7490-4983","authenticated-orcid":false,"given":"Olaf","family":"Hiort","sequence":"additional","affiliation":[{"name":"Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, University of L\u00fcbeck , 23562 L\u00fcbeck ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9308-3129","authenticated-orcid":false,"given":"Paul-Martin","family":"Holterhus","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology and Diabetes, University Hospital of Schleswig-Holstein and Christian Albrechts University , 24105 Kiel ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth","family":"M\u0441Elreavey","sequence":"additional","affiliation":[{"name":"Human Developmental Genetics, Institut Pasteur , 75015 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