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KMID : 1218220100020020102
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Korean Journal of Pediatric Urology
2010 Volume.2 No. 2 p.102 ~ p.106
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Disorder of Sexual Differentiation Presented as an External Genitalia Anomaly
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Jung Suk-Gun
Lee Sang-Don
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Abstract
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Disorder of sexual differentiation is the most fascinating and complex disease processes encountered by the urologist. The phenotypic spectrum of patients with XO/XY mosaicism extends from phenotypic female with Turner’s syndrome, to those with ambiguous genitalia, to, rarely, those appearing as normal males. We reported on one case of 45,XO/46,XY mosaicism presented as an external genitalia anomaly with a brief review of the literatures.
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KEYWORD
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Ambiguous genitalia, Mixed gonadal dysgenesis, Mosaicism
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