Klinefelter's Syndrome with Growth Hormone Deficiency
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概要
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A case of Klinefelter's syndrome with growth hormone (GH) deficiency is reported. He was diagnosed as GH deficiency and administration of recombinant human GH was started at the age of nine. Chromosomal analysis revealed 52, XXY, +5 mar-55, XXY, +8 mar karyotypes. Sufficient compensatory growth spurt was obtained after GH therapy. The karyotypes of Klinefelter's syndrome with short stature have been reported as 47, XXY, 48, XXYY, mosaic XY/XXY, X/Y translocation and 49, XXXXY. This is the first case of these karyotypes with GH deficiency.
- 日本小児内分泌学会の論文
日本小児内分泌学会 | 論文
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