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KMID : 0391519960040010172
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Journal of the Korean Child Neurology Society
1996 Volume.4 No. 1 p.172 ~ p.176
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Variant Klinefelter syndrome (48, XXYY) 1례
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Abstract
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Klinefelter syndrome originally described by Klinefelter et al. in 1942, is now recognized as a sex chromosomal disorder resulting in a form of primary hypogonadism in phenotypic males, clinically becoming apparent in puberty. The Karyotype 48,
XXYY was
first described by Muldel and Ockey in 1960. The 48, XXYY cases is described differed from the more common 47, XXY case in skeletal proportions, dermatoglyphics, and level of intelligence.
@ES Other phenotypic features ;
@EN small atrophic testes, defective spermatogenesis, sterility, elevated gonadotrophins, normal to low level plasma testosterone and variable degrees of underdeveloped secondary sexual characteristics do not differe significantly from those
present in
the classic syndrome.
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KEYWORD
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