{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,1,24]],"date-time":"2025-01-24T05:16:09Z","timestamp":1737695769809,"version":"3.33.0"},"reference-count":24,"publisher":"Endocrinology Research Centre","issue":"6","license":[{"start":{"date-parts":[[2024,1,9]],"date-time":"2024-01-09T00:00:00Z","timestamp":1704758400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.probl-endojournals.ru\/jour\/about\/editorialPolicies#openAccessPolicy"}],"content-domain":{"domain":["www.probl-endojournals.ru"],"crossmark-restriction":true},"short-container-title":["Probl Endokrinol (Mosk)"],"abstract":"<jats:p><jats:bold>BACKGROUND<\/jats:bold>: Deficiency of 17\u03b2-hydroxysteroid dehydrogenase type 3 (HSD17B3) is a rare variant of 46,XY disorders of sex development (DSD).<jats:bold>AIM<\/jats:bold>: To give clinical, hormonal and molecular genetic characteristics of cases of 46,XY DSD associated with variants in the\u00a0HSD17B3 gene.<jats:bold>MATERIALS AND METHODS<\/jats:bold>: The study included 310 patients with 46,XY DSD for the period from 2015 to 2019. The\u00a0patients underwent a comprehensive examination, including a study of the steroid profile by high-performance liquid chromatography with tandem mass spectrometric detection, as well as a molecular genetic analysis using NGS.<jats:bold>RESULTS<\/jats:bold>: According to the results of molecular genetic studies, biallelic nucleotide substitutions in the HSD17B3 gene were detected in 13 cases, which accounted for 4.2% of the total number of patients with 46,XY DSD. All 13 patients with biallelic variants in the HSD17B3 gene were registered as females. The ratio of androstenedione\/testosterone concentrations in the blood in this group ranged from 1.4 to 8.9. 2 variants in the HSD17B3 gene were found in several patients: c.277+4A&gt;T (on 6 chromosomes) and c.729_735del:p.V243fs (on 9 chromosomes). 4 novel variants have been identified. Monoallelic nucleotide substitutions in the HSD17B3 gene were detected in 7 cases, which accounted for 2.3% of the total number of patients with 46,XY DSD. External genitalia in this group corresponded to Prader stages 3\u20134. In 1 patient, a pathogenic variant c.277+4A&gt;T was detected in the HSD17B3 gene, in other cases variants with uncertain significance were detected.<jats:bold>CONCLUSION<\/jats:bold>: In the structure of 46,XY DSD, patients with biallelic variants in the HSD17B3 gene were identified in 4.2% of cases, with monoallelic variants \u2014 in 2.3% of cases. 4 novel variants were found in the HSD17B3 gene.<\/jats:p>","DOI":"10.14341\/probl13415","type":"journal-article","created":{"date-parts":[[2025,1,23]],"date-time":"2025-01-23T10:25:50Z","timestamp":1737627950000},"page":"91-98","update-policy":"https:\/\/doi.org\/10.14341\/crossmarkpolicy2018","source":"Crossref","is-referenced-by-count":0,"title":["Clinical, hormonal and molecular genetic characteristics of patients with 46,XY disorders of sex development associated with variants in the HSD17B3 gene"],"prefix":"10.14341","volume":"70","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2000-7694","authenticated-orcid":true,"given":"N. Y.","family":"Kalinchenko","sequence":"first","affiliation":[{"name":"Endocrinology Research Centre"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0412-7140","authenticated-orcid":true,"given":"N. A.","family":"Makretskaya","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7736-5372","authenticated-orcid":true,"given":"A. A.","family":"Kolodkina","sequence":"additional","affiliation":[{"name":"Endocrinology Research Centre"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9002-1662","authenticated-orcid":true,"given":"V. A.","family":"Ioutsi","sequence":"additional","affiliation":[{"name":"Endocrinology Research Centre"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0520-9132","authenticated-orcid":true,"given":"V. M.","family":"Petrov","sequence":"additional","affiliation":[{"name":"Endocrinology Research Centre"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8500-4841","authenticated-orcid":true,"given":"A. N.","family":"Tyulpakov","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics;\r\nRussian Children\u2019s Clinical Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"5458","published-online":{"date-parts":[[2024,1,9]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","unstructured":"Geissler WM, Davis DL, Wu L, Bradshaw KD, Patel S, et al. Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3. Nat Genet. 1994;7(1):34-9. doi: https:\/\/doi.org\/10.1038\/ng0594-34","DOI":"10.1038\/ng0594-34"},{"key":"ref2","doi-asserted-by":"crossref","unstructured":"Andersson S, Geissler WM, Wu L, Davis DL, Grumbach MM, et al. 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