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症例
45,X,H-Y抗原陰性のMixed Gonadal Dysgenesisの1例
A CASE OF 45, X, H-Y NEGATIVE MIXED GONADAL DYSGENESIS
仲地 研吾
1
,
谷風 三郎
1
,
玉木 健雄
2
,
伊東 宏
3
Kengo Nakachi
1
,
Saburo Tanikaze
1
,
Takeo Tamaki
2
,
Hiroshi Ito
3
1兵庫県立こども病院泌尿器科
2兵庫県立こども病院遺伝科
3兵庫県立こども病院病理
1Department of Urology, Kobe Children's Hospital
2Department of Genetics, Kobe Children's Hospital
3Department of Pathology, Kobe Children's Hospital
pp.349-351
発行日 1984年4月20日
Published Date 1984/4/20
DOI https://doi.org/10.11477/mf.1413203795
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緒言
Mixed Gonadal Dysgenesis(MGD)とは一側性腺が睾丸で反対側がStreak Gonad,性染色体はX/XYのモザイクを基本とし,ミュラー管由来の内性器と多少男性化の強い両性様外性器を有する特異的な症候群である1)。最近われわれは染色体45,XでH-Y抗原陰性のMGDの1例を経験したので報告する。
A one year and six months old registered female was presented with characteristic features of mixed gonadal dysgenesis. Chromosomal analysis revealed 45, X and H-Y antigen could not be detected by cytotoxic assay. The mechanism of induction of testis or streak gonad was still unknown but it might be possible that the existence of biologically active and immunologically inactive H-Y antigen would play an important role in this case.
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