Yamaguchi T, Abe H, Kuwano T, Sugimoto T, Chihara K
Department of Medicine, Kobe University School of Medicine, Japan.
Exp Clin Endocrinol. 1994;102(4):348-50. doi: 10.1055/s-0029-1211302.
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 and firm testes. A chromosomal examination and a testicular biopsy revealed a complication of 47, XXY Klinefelter syndrome with CAH. Association of these two diseases has not been reported so far, and the present case is the first one to our knowledge.
我们在此描述一例伴有克兰费尔特综合征的先天性肾上腺皮质增生症（CAH）的独特病例。一名日本男孩出生时被诊断为因21 - 羟化酶缺乏导致的CAH，但此后直到10岁都未接受治疗。在此期间，他在9岁时出现了明显的身体生长加速和性早熟，而在那时生长完全停止。在我们诊所进行定期随访以及10岁后进行类固醇治疗期间，发现他双侧睾丸小而坚实。染色体检查和睾丸活检显示为47, XXY克兰费尔特综合征合并CAH。这两种疾病的关联迄今为止尚未见报道，就我们所知，本病例是首例。
