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Genomic technologies and the diagnosis of 46, XY differences of sex development.

Firman IdrisAndrew H SinclairKatie L Ayers
Published in: Andrology (2024)
 : Differences/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.
Keyphrases
  • genome wide
  • gene expression
  • machine learning
  • palliative care
  • mass spectrometry
  • high resolution
  • deep learning
  • single molecule
  • liquid chromatography
  • drug induced
  • simultaneous determination
  • affordable care act