KMID : 0358319860270050786
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Korean Journal of Urology 1986 Volume.27 No. 5 p.786 ~ p.790
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A Case of 48XXXY Klinefelter¡¯s Syndrome
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Á¶ÀçÇÊ/Cho JP
±èµ¿¼±/Á¶ÀçÈï/±è¼¼°æ/Kim DS/Cho JH/Kim SK
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Abstract
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There are many variant forms in Klinefelter¡¯s syndrome which is characterized by azoospermia, gynecomastia, a variable degree of enuchoidism, elevated urinary gonadotropins, atrophic testis and hyalinization of the seminiferous tubules.
Among these, 48XXXY from is known as rare variants of Klinefelter¡¯s syndrome which had been reported about 50 cases.
48 XXXY Klinefelter¡¯s syndrome is composed of more severe physical abnormality and more multiple symptom and signs than classic Klinefelter¡¯s syndrome.
We have reported a case of 48 XXXY Klinefelter¡¯s syndrome associated with ophthalmic problems and mild mental retardation in 20 year old Korean male.
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KEYWORD
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