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KMID : 0358419960390030610
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Korean Journal of Obstetrics and Gynecology
1996 Volume.39 No. 3 p.610 ~ p.614
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A Case of 48, XXXY Klinefelter's Syndrome
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강준구
이광호/정경우/허준용/서호석/박용균/조수용/주갑순
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Abstract
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There are many variant forms in Klinefelter's syndrome which is characterized by azospermia, gynecomastia, elevated urinary gonadotropin, atrophic testis and hyalinization of the seminiferous tubules.
Among these, 48,XXXY form is known as rare variant of Klinefelter's syndrome which had been reported about 50 cases. 48,XXXY Klinefelter's syndrome is characterized by more severe physical abnormalities and more multiple symptoms and signs than
classic
Klinefelter's syndrome.
We report a case of 48,XXXY Klinefelter's syndrome associated with ophalmic problems and mild mental retardation in 20 year-old Korean male.
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KEYWORD
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