Congenital adrenal hyperplasia with 47, XXY Klinefelter syndrome.

  title={Congenital adrenal hyperplasia with 47, XXY Klinefelter syndrome.},
  author={Tatsumi Yamaguchi and Hiroshi Abe and Takashi Kuwano and Toshitsugu Sugimoto and Koji Chihara},
  journal={Experimental and clinical endocrinology},
  volume={102 4},
  • Tatsumi Yamaguchi, Hiroshi Abe, +2 authors Koji Chihara
  • Published in
    Experimental and clinical…
  • Medicine
  • We describe here a unique case of congenital adrenal hyperplasia (CAH) accompanied by Klinefelter syndrome. A Japanese boy was diagnosed as having CAH caused by 21-hydroxylase deficiency at birth, but was untreated thereafter until age 10. In the meantime he showed marked acceleration in somatic growth with sexual precocity by age 9, at which time growth completely stopped. During regular follow-ups at our clinic and steroid treatment after age 10, he was recognized as having bilateral small… CONTINUE READING

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