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| Format: | Artículo Open Access |
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Wiley
2024
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| Online Access: | https://onlinelibrary.wiley.com/doi/10.1111/andr.13708 |
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| _version_ | 1867012823790387200 |
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| author | Firman Idris Andrew H. Sinclair Katie L. Ayers |
| author_facet | Firman Idris Andrew H. Sinclair Katie L. Ayers Firman Idris Andrew H. Sinclair Katie L. Ayers |
| collection | Wiley Open Access |
| contents | Genomic technologies and the diagnosis of 46, XY differences of sex development Firman Idris Andrew H. Sinclair Katie L. Ayers Andrology AbstractDifferences/disorders of sex development can be caused by disruptions to the molecular and cellular mechanisms that control development and sex determination of the reproductive organs with 1:100 live births affected. Multiple genes are associated with 46, XY differences/disorders of sex development that can cause varying clinical phenotypes. An accurate genetic diagnosis is essential to guide clinical care for individuals with 46, XY differences/disorders of sex development and can contribute to family planning. The use of genomics in differences/disorders of sex development has grown, with several advances employed in genetic diagnosis; however, diagnostic rates have stagnated at less than 50% for these conditions. This review will discuss 46, XY differences/disorders of sex development, its molecular causes, and the genomic technologies currently utilized for diagnosis with focus on reports from the last 5 years. We also touch on the challenges in diagnosing 46, XY differences/disorders of sex development and discuss new and future technologies that promise to improved diagnostic rates for these difficult conditions. 10.1111/andr.13708 http://creativecommons.org/licenses/by/4.0/ |
| doi_str_mv | 10.1111/andr.13708 |
| format | Artículo Open Access |
| id | wiley_oa_10_1111_andr_13708 |
| institution | Wiley Open Access |
| license_str_mv | http://creativecommons.org/licenses/by/4.0/ |
| publishDate | 2024 |
| publisher | Wiley |
| record_format | wiley_oa |
| spellingShingle | Genomic technologies and the diagnosis of 46, XY differences of sex development Firman Idris Andrew H. Sinclair Katie L. Ayers Andrology Genomic technologies and the diagnosis of 46, XY differences of sex development Firman Idris Andrew H. Sinclair Katie L. Ayers Andrology AbstractDifferences/disorders of sex development can be caused by disruptions to the molecular and cellular mechanisms that control development and sex determination of the reproductive organs with 1:100 live births affected. Multiple genes are associated with 46, XY differences/disorders of sex development that can cause varying clinical phenotypes. An accurate genetic diagnosis is essential to guide clinical care for individuals with 46, XY differences/disorders of sex development and can contribute to family planning. The use of genomics in differences/disorders of sex development has grown, with several advances employed in genetic diagnosis; however, diagnostic rates have stagnated at less than 50% for these conditions. This review will discuss 46, XY differences/disorders of sex development, its molecular causes, and the genomic technologies currently utilized for diagnosis with focus on reports from the last 5 years. We also touch on the challenges in diagnosing 46, XY differences/disorders of sex development and discuss new and future technologies that promise to improved diagnostic rates for these difficult conditions. 10.1111/andr.13708 http://creativecommons.org/licenses/by/4.0/ |
| title | Genomic technologies and the diagnosis of 46, XY differences of sex development |
| topic | Andrology |
| url | https://onlinelibrary.wiley.com/doi/10.1111/andr.13708 |