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| Main Authors: | , , |
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| Format: | Artículo Open Access |
| Published: |
Wiley
2024
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| Online Access: | https://onlinelibrary.wiley.com/doi/10.1111/andr.13708 |
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Table of 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/