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The Molecular Basis of Gonadal Development and Disorders of Sex Development

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Disorders of Sex Development

Abstract

Disorders of Sex Development (DSD) are congenital conditions where the development of chromosomal, gonadal or anatomical sex is atypical. In most cases this is due to a breakdown of gene regulatory networks that are responsible for appropriate gonad development. Studies in humans and mice have identified a number of genes that play critical roles in testis and ovary development. In this chapter we review some of the key genes involved in gonad development and describe how defects affecting these genes result in DSD.

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Authors and Affiliations

  1. Centre for Reproduction and Development, Monash Institute of Medical Research, Clayton, VIC, Australia

    Stefan White

  2. Murdoch Children’s Research Institute and Department of Paediatrics, The University of Melbourne, Royal Children’s Hospital, Flemington Road, Melbourne, VIC, Australia

    Andrew Sinclair

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  1. Stefan White
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  2. Andrew Sinclair
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Correspondence to Andrew Sinclair .

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Editors and Affiliations

  1. , Department of Urology, The Royal Children's Hospital, Flemington Road, Parkville, 3052, Victoria, Australia

    John M. Hutson

  2. , Department of Endocrinology and Diabetes, The Royal Children's Hospital, Flemington Road, Parkville, 3052, Victoria, Australia

    Garry L. Warne

  3. , Department of Gynaecology, Royal Children's Hospital, Flemington Road, Parkville, 3052, Victoria, Australia

    Sonia R. Grover

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White, S., Sinclair, A. (2012). The Molecular Basis of Gonadal Development and Disorders of Sex Development. In: Hutson, J., Warne, G., Grover, S. (eds) Disorders of Sex Development. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-22964-0_1

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  • DOI: https://doi.org/10.1007/978-3-642-22964-0_1

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