{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,26]],"date-time":"2026-04-26T10:12:07Z","timestamp":1777198327203,"version":"3.51.4"},"reference-count":25,"publisher":"S. Karger AG","issue":"4-6","license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Sex Dev"],"published-print":{"date-parts":[[2023]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Introduction:&lt;\/i&gt;&lt;\/b&gt; 46,XY gonadal dysgenesis is a condition that is characterised by undeveloped testes in individuals with a male karyotype. Mutations in many genes that underlie this condition have been identified; however, there are still a considerable number of patients with an unknown genetic background. Recently, a mutation in the &lt;i&gt;STARD8&lt;\/i&gt; X-linked gene in two sisters with 46,XY gonadal dysgenesis has been reported. It was localised within the START domain, whose homologue in &lt;i&gt;Drosophila&lt;\/i&gt; is responsible for maintaining testes integrity during their development. &lt;b&gt;&lt;i&gt;Methods:&lt;\/i&gt;&lt;\/b&gt; We analysed the potential pathogenicity of another &lt;i&gt;STARD8&lt;\/i&gt; mutation, p.R887C, that was identified in a patient with 46,XY asymmetric gonadal dysgenesis. For this purpose, molecular dynamics simulations were performed. &lt;b&gt;&lt;i&gt;Results:&lt;\/i&gt;&lt;\/b&gt; These simulations revealed the full rearrangement of the helix containing the p.R887C substitution upstream from the START domain, which may cause STARD8 protein dysfunction and contribute to 46,XY gonadal dysgenesis. A comparison of the phenotypes of the three described 46,XY gonadal dysgenesis patients that harbour &lt;i&gt;STARD8&lt;\/i&gt; mutations indicated that alterations of this gene can result in a partial or complete gonadal dysgenesis phenotype. &lt;b&gt;&lt;i&gt;Conclusion:&lt;\/i&gt;&lt;\/b&gt; Based on these and previous results, it is reasonable to include &lt;i&gt;STARD8&lt;\/i&gt; in gene panels for 46,XY gonadal dysgenesis. <\/jats:p>","DOI":"10.1159\/000537877","type":"journal-article","created":{"date-parts":[[2024,3,8]],"date-time":"2024-03-08T22:00:26Z","timestamp":1709935226000},"page":"181-189","source":"Crossref","is-referenced-by-count":5,"title":["Mutations in STARD8 (DLC3) May Cause 46,XY Gonadal 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