{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T13:39:59Z","timestamp":1770817199455,"version":"3.50.1"},"reference-count":81,"publisher":"MDPI AG","issue":"17","license":[{"start":{"date-parts":[[2022,9,2]],"date-time":"2022-09-02T00:00:00Z","timestamp":1662076800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Portuguese Foundation for Science and Technology","award":["UIDB\/00709\/2020"],"award-info":[{"award-number":["UIDB\/00709\/2020"]}]},{"name":"Portuguese Foundation for Science and Technology","award":["CENTRO-08-5864-FSE-000039"],"award-info":[{"award-number":["CENTRO-08-5864-FSE-000039"]}]},{"name":"Portuguese Foundation for Science and Technology","award":["CENTRO-01-0145-FEDER-000019"],"award-info":[{"award-number":["CENTRO-01-0145-FEDER-000019"]}]},{"DOI":"10.13039\/501100014717","name":"Programa Operacional Regional do Centro","doi-asserted-by":"publisher","award":["UIDB\/00709\/2020"],"award-info":[{"award-number":["UIDB\/00709\/2020"]}],"id":[{"id":"10.13039\/501100014717","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100014717","name":"Programa Operacional Regional do Centro","doi-asserted-by":"publisher","award":["CENTRO-08-5864-FSE-000039"],"award-info":[{"award-number":["CENTRO-08-5864-FSE-000039"]}],"id":[{"id":"10.13039\/501100014717","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100014717","name":"Programa Operacional Regional do Centro","doi-asserted-by":"publisher","award":["CENTRO-01-0145-FEDER-000019"],"award-info":[{"award-number":["CENTRO-01-0145-FEDER-000019"]}],"id":[{"id":"10.13039\/501100014717","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>The 17-beta-hydroxysteroid dehydrogenase type 3 (17-\u03b2-HSD3) enzyme converts androstenedione to testosterone and is encoded by the HSD17B3 gene. Homozygous or compound heterozygous HSD17B3 mutations block the synthesis of testosterone in the fetal testis, resulting in a Disorder of Sex Development (DSD). We describe a child raised as a female in whom the discovery of testes in the inguinal canals led to a genetic study by whole exome sequencing (WES) and to the identification of a compound heterozygous mutation of the HSD17B3 gene (c.608C&gt;T, p.Ala203Val, and c.645A&gt;T, p.Glu215Asp). Furthermore, we review all HSD17B3 mutations published so far in cases of 17-\u03b2-HSD3 deficiency. A total of 70 different HSD17B3 mutations have so far been reported in 239 patients from 187 families. A total of 118 families had homozygous mutations, 63 had compound heterozygous mutations and six had undetermined genotypes. Mutations occurred in all 11 exons and were missense (55%), splice-site (29%), small deletions and insertions (7%), nonsense (5%), and multiple exon deletions and duplications (2%). Several mutations were recurrent and missense mutations at codon 80 and the splice-site mutation c.277+4A&gt;T each represented 17% of all mutated alleles. These findings may be useful to those involved in the clinical management and genetic diagnosis of this disorder.<\/jats:p>","DOI":"10.3390\/ijms231710026","type":"journal-article","created":{"date-parts":[[2022,9,6]],"date-time":"2022-09-06T05:17:23Z","timestamp":1662441443000},"page":"10026","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency: A Case Report and Review of 70 Different HSD17B3 Mutations Reported in 239 Patients"],"prefix":"10.3390","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6659-1200","authenticated-orcid":false,"given":"Catarina I.","family":"Gon\u00e7alves","sequence":"first","affiliation":[{"name":"CICS-UBI, Health Sciences Research Centre, University of Beira Interior, 6200-506 Covilha, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6280-2664","authenticated-orcid":false,"given":"Josianne","family":"Carri\u00e7o","sequence":"additional","affiliation":[{"name":"CICS-UBI, Health Sciences Research Centre, University of Beira Interior, 6200-506 Covilha, Portugal"}]},{"given":"Margarida","family":"Bastos","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universit\u00e1rio de Coimbra, 3000-075 Coimbra, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9326-8900","authenticated-orcid":false,"given":"Manuel C.","family":"Lemos","sequence":"additional","affiliation":[{"name":"CICS-UBI, Health Sciences Research Centre, University of Beira Interior, 6200-506 Covilha, Portugal"},{"name":"C4-UBI, Cloud Computing Competence Centre, University of Beira Interior, 6200-501 Covilha, Portugal"}]}],"member":"1968","published-online":{"date-parts":[[2022,9,2]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/j.jsbmb.2016.05.002","article-title":"46,XY disorder of sex development (DSD) due to 17beta-hydroxysteroid dehydrogenase type 3 deficiency","volume":"165","author":"Mendonca","year":"2017","journal-title":"J. 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