{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T14:47:11Z","timestamp":1782312431301,"version":"3.54.5"},"reference-count":19,"publisher":"BMJ","issue":"12","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,11,30]]},"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:p>\n                    17-beta hydroxysteroid dehydrogenase-3 enzyme is an enzyme expressed almost exclusively in the testes; it plays a crucial role in gonadal differentiation by catalysing the conversion of androstenedione (\u03944) to testosterone (T). The enzyme is encoded by the 17-B-hydroxysteroid dehydrogenase-3 (\n                    <jats:italic>HSD17B3<\/jats:italic>\n                    ) gene. Mutations in this gene result in undervirilisation of the external male genitalia. We present a case of a child born with ambiguous genitalia. The gonads were palpable in the inguinal canal bilaterally and their presence was confirmed by ultrasound. This raised the suspicion of 46XY disorder of sex development. Initial biochemical investigations showed a low T\/\u03944 ratio, which normalised following human chorionic gonadotropin stimulation, supporting the diagnosis of a steroidogenic defect. Due to the initially very low ratio, genetic testing was pursued and revealed a homozygous mutation in the\n                    <jats:italic>HSD17B3<\/jats:italic>\n                    gene, c.608C&gt;T (p.Ala203Val) near exon 9. This variant has been reported only once previously in the literature.\n                  <\/jats:p>","DOI":"10.1136\/bcr-2025-266828","type":"journal-article","created":{"date-parts":[[2025,12,16]],"date-time":"2025-12-16T01:35:18Z","timestamp":1765848918000},"page":"e266828","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Unmasking a rare variant: 17\u03b2-HSD3 deficiency in a male infant with disorders of sex development"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7608-2271","authenticated-orcid":false,"given":"Khadija","family":"Ali","sequence":"first","affiliation":[{"name":"Pediatrics, King Hamad University Hospital, Muharraq, Muharraq Governorate, Bahrain"},{"name":"Department of Pediatrics, King Hamad American Mission Hospital, A\u2019ALI - KHAMH, Bahrain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Razan AR","family":"Abduljalil","sequence":"additional","affiliation":[{"name":"Pediatrics, King Hamad University Hospital, Muharraq, Muharraq Governorate, Bahrain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatima","family":"Alqanea","sequence":"additional","affiliation":[{"name":"Pediatrics, King Hamad University Hospital, Muharraq, Muharraq Governorate, Bahrain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6739-2887","authenticated-orcid":false,"given":"Hussain","family":"Alsaffar","sequence":"additional","affiliation":[{"name":"Child Health Department, Sultan Qaboos University Hospital - University Medical City, Muscat, Oman"},{"name":"Child Health, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman"},{"name":"College of Medicine, University of Al-Ameed, Karbala, Iraq"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2025,12,15]]},"reference":[{"key":"2026062407001208000_18.12.e266828.1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.81.1.130"},{"key":"2026062407001208000_18.12.e266828.2","doi-asserted-by":"publisher","DOI":"10.1159\/000442975"},{"key":"2026062407001208000_18.12.e266828.3","first-page":"455","article-title":"17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population","volume":"3 Suppl 3","author":"Rosler","year":"2006","journal-title":"Pediatr Endocrinol Rev"},{"key":"2026062407001208000_18.12.e266828.4","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/j.jsbmb.2017.08.012","article-title":"17\u03b2-Hydroxysteroid dehydrogenase 3 deficiency: Three case reports and a systematic review","volume":"174","author":"Yang","year":"2017","journal-title":"J Steroid Biochem Mol Biol"},{"key":"2026062407001208000_18.12.e266828.5","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1016\/j.fertnstert.2007.02.048","article-title":"17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite","volume":"89","author":"Mains","year":"2008","journal-title":"Fertil Steril"},{"key":"2026062407001208000_18.12.e266828.6","doi-asserted-by":"crossref","DOI":"10.3389\/fcell.2024.1429292","article-title":"Dynamics of HSD17B3 expression in human fetal testis: implications for the role of Sertoli cells in fetal testosterone biosynthesis","volume":"12","author":"Planinic","year":"2024","journal-title":"Front Cell Dev Biol"},{"key":"2026062407001208000_18.12.e266828.7","doi-asserted-by":"publisher","DOI":"10.1016\/j.jsbmb.2016.05.002"},{"key":"2026062407001208000_18.12.e266828.8","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2007.02829.x"},{"key":"2026062407001208000_18.12.e266828.9","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"},{"key":"2026062407001208000_18.12.e266828.10","unstructured":"Domenice S , Batista RL , Arnhold IJP , et al . 46,xy differences of sexual development. In: Feingold KR , Ahmed SF , Anawalt B , et al , eds. Endotext. South Dartmouth (MA): MDText.com, Inc, 2000. Available: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK279170\/"},{"key":"2026062407001208000_18.12.e266828.11","doi-asserted-by":"publisher","DOI":"10.1677\/erc.1.01048"},{"key":"2026062407001208000_18.12.e266828.12","doi-asserted-by":"publisher","DOI":"10.1210\/jc.84.12.4713"},{"key":"2026062407001208000_18.12.e266828.13","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2265.2000.01166.x"},{"key":"2026062407001208000_18.12.e266828.14","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1186\/s13633-016-0030-x","article-title":"46,XY disorder of sex development due to 17-beta hydroxysteroid dehydrogenase type 3 deficiency: a plea for timely genetic testing","volume":"2016","author":"Grimbly","year":"2016","journal-title":"Int J Pediatr Endocrinol"},{"key":"2026062407001208000_18.12.e266828.15","doi-asserted-by":"crossref","DOI":"10.3390\/ijms232415555","article-title":"New Insights into Testosterone Biosynthesis: Novel Observations from HSD17B3 Deficient Mice","volume":"23","author":"Lawrence","year":"2022","journal-title":"Int J Mol Sci"},{"key":"2026062407001208000_18.12.e266828.16","doi-asserted-by":"publisher","DOI":"10.1210\/jc.81.5.1827"},{"key":"2026062407001208000_18.12.e266828.17","doi-asserted-by":"publisher","DOI":"10.1038\/ng0594-34"},{"key":"2026062407001208000_18.12.e266828.18","doi-asserted-by":"crossref","first-page":"74","DOI":"10.4274\/jcrpe.4829","article-title":"46,XY Disorder of Sex Development due to 17-Beta Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Infant of Greek Origin","volume":"10","author":"Galli-Tsinopoulou","year":"2018","journal-title":"J Clin Res Pediatr Endocrinol"},{"key":"2026062407001208000_18.12.e266828.19","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1097\/00005792-200009000-00003","article-title":"Male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase 3 deficiency. Diagnosis, psychological evaluation, and management","volume":"79","author":"Mendonca","year":"2000","journal-title":"Medicine (Baltimore)"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-266828","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T14:00:35Z","timestamp":1782309635000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-266828"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12]]},"references-count":19,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2025,12,15]]},"published-print":{"date-parts":[[2025,12]]}},"alternative-id":["10.1136\/bcr-2025-266828"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-266828","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,12]]}}}