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46,XY DSD

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Disorders|Differences of Sex Development

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Abstract

DSD, with 46,XY chromosomal complement, comprise a heterogeneous group of conditions, where either the hormones associated with virilisation (androgens) are not produced, or the target organs are unable to respond in a typical manner. Important causes to consider in these individuals are gonadal dysgenesis, variations in androgen synthesis and androgen insensitivity syndrome (AIS)—partial or complete. However, the precise nature of many 46,XY DSD cannot be diagnosed at a molecular level. Improved identification of the underlying molecular variations will hopefully allow for improved understanding of outcomes and management options.

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Acknowledgements

With thanks and acknowledgement to the authors of the original chapter: Dr. Jacqueline Hewitt, Professor Garry L. Warne AM.

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Authors and Affiliations

  1. Department of Endocrinology and Diabetes, The Royal Children’s Hospital, Melbourne, VIC, Australia

    Michele A. O’Connell

  2. Murdoch Children’s Research Institute, Melbourne, VIC, Australia

    Michele A. O’Connell, Aurore Bouty, Sonia R. Grover & Sonia R. Grover

  3. Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia

    Sonia R. Grover

Authors
  1. Michele A. O’Connell
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  2. Aurore Bouty
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  3. Sonia R. Grover
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Corresponding author

Correspondence to Michele A. O’Connell .

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Editors and Affiliations

  1. Department of Urology, The Royal Children’s Hospital, Melbourne, VIC, Australia

    John M. Hutson

  2. Department of Gynaecology, The Royal Children’s Hospital, Melbourne, VIC, Australia

    Sonia R. Grover

  3. Endocrinology & Diabetes, Royal Children's Hospital Endocrinology & Diabetes, Melbourne, VIC, Australia

    Michele A. O'Connell

  4. Department of Urology, The Royal Children’s Hospital, Melbourne, VIC, Australia

    Aurore Bouty

  5. Department of Gynaecology, The Royal Children’s Hospital, Melbourne, VIC, Australia

    Chloe A. Hanna

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O’Connell, M.A., Bouty, A., Grover, S.R. (2020). 46,XY DSD. In: Hutson, J., Grover, S., O'Connell, M., Bouty, A., Hanna, C. (eds) Disorders|Differences of Sex Development. Springer, Singapore. https://doi.org/10.1007/978-981-13-7864-5_7

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