Sex Chromosomes, Sex Chromosome Disorders, and Disorders of Sex Development

  • Cynthia M. Powell


It can be argued that the sex chromosomes are the most important pair of chromosomes given their role in determining gender and, therefore, allowing for reproduction and procreation. Considered together, sex chromosome aneuploidies are the most common chromosome abnormalities seen in live-born infants, children, and adults. Physicians in many specialties including pediatrics, obstetrics and gynecology, endocrinology, internal medicine, and surgery commonly encounter individuals with sex chromosome disorders. There has been a great deal of misinformation in the past regarding outcomes and developmental profiles of these patients, leading to bias and discrimination. This chapter attempts to provide a summary of information regarding the sex chromosomes, sex chromosome disorders, and disorders of sex development.


Intellectual Disability Turner Syndrome Premature Ovarian Failure Klinefelter Syndrome Gonadal Dysgenesis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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© Springer Science+Business Media New York 2013

Authors and Affiliations

  1. 1.Department of PediatricsThe University of North Carolina at Chapel HillChapel HillUSA

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