Abstract
Some of the causes of DSD are abnormal combinations of sex chromosomes. Mixed sex chromosome DSD, where there is aneuploidy, or lacked of paired chromosomes, is the cause of Turner syndrome (45,X) and Kleinfelter syndrome (47,XXY). In addition, there are often mosaic mixtures of sex chromosomes, where patients with Turner syndrome have some Y-chromosomal cell lines that predispose to gonadal malignancy. There are also well-known patterns of asymmetrical sex development where a 45,X/46,XY pattern produces mixed gonadal dysgenesis and 46,XX/46,XY may cause ovo-testicular DSD.
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Hewitt, J.K., Warne, G.L. (2012). Mixed Sex Chromosome and Ovo-Testicular DSD. 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_8
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DOI: https://doi.org/10.1007/978-3-642-22964-0_8
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