{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T15:38:20Z","timestamp":1791041900490,"version":"4.1.0"},"reference-count":31,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,2,14]],"date-time":"2025-02-14T00:00:00Z","timestamp":1739491200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:p>The RNA helicase <jats:italic>DHX37<\/jats:italic> gene is involved in ribosomal biological processes, and linked to human genetic diseases associated with 46,XY disorders of sex development (46,XY DSD) or neurodevelopment. Recently, relevant reports have primarily focused on 46,XY DSD. However, there is still a lack of overall understanding of the genetic characteristics, phenotype, etc. of the <jats:italic>DHX37<\/jats:italic> gene in human genetic diseases, and its molecular mechanism is not fully understood. We searched literature databases and summarized and analyzed all the literature related to <jats:italic>DHX37<\/jats:italic> to date, including case reports, cohort studies, and molecular mechanism studies, to comprehensively demonstrate the role of <jats:italic>DHX37<\/jats:italic> in human genetic diseases. Sixty patients were reported to have <jats:italic>DHX37<\/jats:italic>-related 46,XY DSD, with p.R308Q, p.R674W variants being the two most common mutation hotspots, accounting for 36.67% and 11.67% of cases respectively. In DSD cohorts, <jats:italic>DHX37<\/jats:italic> gene mutations have different detection frequencies (0.77%\u201345.45%), whereas in testicular regression syndrome and 46,XY gonadal dysgenesis cohorts, they have a high detection rate. The gonadal development and fertility of female (46,XX) carriers with <jats:italic>DHX37<\/jats:italic> gene mutations are not affected; however, incomplete penetrance may be observed in males (46,XY). The treatments are primarily surgical intervention and hormone replacement therapy administered at appropriate times; however, the long-term prognosis remains unknown. Although the molecular mechanism of <jats:italic>DHX37<\/jats:italic> mutation related 46,XY DSD is unclear, ribosome synthesis, cell cycle regulation, and the NF-\u03baB and Wnt pathways may be affected. This review summarizes the profile of <jats:italic>DHX37<\/jats:italic> defects in human genetic diseases.<\/jats:p>","DOI":"10.3389\/fendo.2025.1507749","type":"journal-article","created":{"date-parts":[[2025,2,14]],"date-time":"2025-02-14T05:10:29Z","timestamp":1739509829000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":5,"title":["Profile of DHX37 gene defects in human genetic diseases: 46,XY disorders of sex 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