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Principles of Molecular Medicine pp 400–445Cite as

Disorders of Sex Determination and Differentiation

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Abstract

Abnormalities of sex determination and differentiation comprise two major clinical groups: disorders of gonadal development (i.e., disorders of sex determination: sex reversal, true hermaphroditism), swith secondary effects on genital development, and defects of genital development in the presence of normal gonads (disorders of sex differentiation: male and female “pseudohermaphroditism”). This chapter will review the embryology of normal sex determination and differentiation, the genetic basis of normal and abnormal sex determination and differentiation, and the approaches to diagnosis of disorders of sex determination and differentiation.

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Authors and Affiliations

  1. Department of Pediatrics, Indiana University School of Medicine, Lilly Research Laboratories, Indianapolis, IN

    Charmian A. Quigley

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  1. Charmian A. Quigley
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Editors and Affiliations

  1. Department of Medicine, Division of Cardiology Carolina Cardiovascular Biology Center, University of North Carolina School of Medicine, Chapel Hill, NC

    Marschall S. Runge MD, PhD  & Cam Patterson MD  & 

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© 2006 Humana Press Inc.

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Quigley, C.A. (2006). Disorders of Sex Determination and Differentiation. In: Runge, M.S., Patterson, C. (eds) Principles of Molecular Medicine. Humana Press. https://doi.org/10.1007/978-1-59259-963-9_41

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  • DOI: https://doi.org/10.1007/978-1-59259-963-9_41

  • Publisher Name: Humana Press

  • Print ISBN: 978-1-58829-202-5

  • Online ISBN: 978-1-59259-963-9

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