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The Molecular Basis of Sex Determination and Differentiation: Implications for Understanding DSD

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Book cover Disorders|Differences of Sex Development

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Abstract

DSD are a heterogeneous group of congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical. They are complex conditions with regard to their diagnosis, management and sequelae, in particular infertility and risk of gonadal malignancy and therefore represent a major paediatric concern. They are mainly caused by a disruption in the complex network of gene regulation responsible for development of testes, ovaries and genital tracts in the embryo. Studies in both humans and mice have identified a number of genes that play a critical role in this process and that will be presented in this chapter.

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Authors and Affiliations

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

    Aurore Bouty

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

    Aurore Bouty, Katie Ayers & Andrew Sinclair

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

    Katie Ayers & Andrew Sinclair

Authors
  1. Aurore Bouty
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  2. Katie Ayers
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  3. Andrew Sinclair
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Correspondence to Aurore Bouty .

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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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Bouty, A., Ayers, K., Sinclair, A. (2020). The Molecular Basis of Sex Determination and Differentiation: Implications for Understanding 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_2

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