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Clin Genet. 2005 Jan;67(1):15-25.

The endless quest for sex determination genes.

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Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.


Disorders in human sex determination cause defects in gonadal function and can result in a spectrum of abnormalities in the internal and external genitalia, ranging from relatively mild sexual ambiguities to complete sex reversal. Several genes involved in sex determination have been validated in humans, and activities of their gene products are being elucidated, particularly in mouse models. However, how these genes interact in an overall process remains far from clear, and it is probable that many additional genes are involved. Management of patients with pathologies in sex determination and subsequent differentiation is currently under debate, but will require not only an understanding of the multiple definitions of an individual's sex but also an increased knowledge of the molecular mechanisms involved in sex determination.

[Indexed for MEDLINE]

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