{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,16]],"date-time":"2026-02-16T18:36:07Z","timestamp":1771266967460,"version":"3.50.1"},"reference-count":49,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2024,1,30]],"date-time":"2024-01-30T00:00:00Z","timestamp":1706572800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>A complete gonadal dysgenesis (CGD) with 46,XY karyotype is known as the Swyer syndrome and belongs to the group of 46,XY differences of sex development (DSD). The main problem in patients with Swyer syndrome is the delayed puberty and primary amenorrhea. Moreover, intrabdominal dysgenetic gonads in the patient with genetic material of a Y chromosome may conduce to the development of gonadal tumors, such as gonadoblastoma or germinoma. The management of such patients is based on preventive excision of dysgenetic gonads and long-term hormonal replacement therapy. Sporadic cases are considered more common than familial cases. This paper presents two siblings with Swyer syndrome in whom gonadoblastoma was found. A thorough review of familial CGD with 46,XY DSD in the literature from the last 15 years suggests that the risk of gonadal tumors could be increased in familial compared to sporadic cases (66.6% vs. 15\u201345%, respectively).<\/jats:p>","DOI":"10.3390\/jcm13030785","type":"journal-article","created":{"date-parts":[[2024,1,30]],"date-time":"2024-01-30T11:35:34Z","timestamp":1706614534000},"page":"785","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["A Risk of Gonadoblastoma in Familial Swyer Syndrome\u2014A Case Report and Literature Review"],"prefix":"10.3390","volume":"13","author":[{"given":"Ewa","family":"Rudnicka","sequence":"first","affiliation":[{"name":"Department of Gynecological Endocrinology, Medical University of Warsaw, 02-091 Warszawa, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aleksandra","family":"Jaro\u0144","sequence":"additional","affiliation":[{"name":"Students Scientific Group of Department of Pediatrics and Endocrinology, Medical University of Warsaw, 02-091 Warszawa, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jagoda","family":"Kruszewska","sequence":"additional","affiliation":[{"name":"Students Scientific Group of Department of Gynecological Endocrinology, Medical University of Warsaw, 02-091 Warszawa, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roman","family":"Smolarczyk","sequence":"additional","affiliation":[{"name":"Department of Gynecological Endocrinology, Medical University of Warsaw, 02-091 Warszawa, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Krystian","family":"Ja\u017cd\u017cewski","sequence":"additional","affiliation":[{"name":"Human Cancer Genetics, Biological and Chemical Research Center University of Warsaw, 02-089 Warszawa, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9406-6868","authenticated-orcid":false,"given":"Pawe\u0142","family":"Derlatka","sequence":"additional","affiliation":[{"name":"Second Department Obstetrics and Gynaecology, Medical University of Warsaw, 02-091 Warszawa, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1714-7709","authenticated-orcid":false,"given":"Anna Ma\u0142gorzata","family":"Kucharska","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Endocrinology, Medical University of Warsaw, 02-091 Warszawa, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,1,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/j.beem.2009.11.004","article-title":"Impact of the consensus statement and the new DSD classification system","volume":"24","author":"Pasterski","year":"2010","journal-title":"Best Pract. 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