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Genetic Disorders Associated with Gonadal Dysfunction

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Abstract

Human development is driven by an individual’s genetics. Alterations in genetic information may lead to abnormal growth and development, including abnormalities affecting reproductive potential. This chapter reviews several genetic disorders associated with gonadal dysfunction and their corresponding fertility preservation and restoration options. Special considerations are noted regarding genetic risk to future offspring and family members. Conditions highlighted in this chapter include ataxia-telangiectasia, fragile X-associated primary ovarian insufficiency, galactosemia, GAPO syndrome, and 22q11.2 deletion syndrome (aka DiGeorge syndrome).

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Authors and Affiliations

  1. Ann and Robert Lurie Children’s Hospital, Chicago, Illinois, USA

    Allison L. Goetsch

  2. Northwestern University, Chicago, Illinois, USA

    Dana Kimelman & Teresa K. Woodruff

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  1. Allison L. Goetsch
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  2. Dana Kimelman
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  3. Teresa K. Woodruff
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Goetsch, A.L., Kimelman, D., Woodruff, T.K. (2017). Genetic Disorders Associated with Gonadal Dysfunction. In: Fertility Preservation and Restoration for Patients with Complex Medical Conditions. Springer, Cham. https://doi.org/10.1007/978-3-319-52316-3_6

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  • DOI: https://doi.org/10.1007/978-3-319-52316-3_6

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-52315-6

  • Online ISBN: 978-3-319-52316-3

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