Bleau G, Richer C L, Chapdelaine A, Roberts K D
Int J Fertil. 1987 Jan-Feb;32(1):50-5.
We investigated the endocrine function of a patient with Klinefelter syndrome in which the extra chromosome was an isochromosome Xq. This man was azoospermic but with normal secondary sex characteristics; smallness of the testes was the only abnormal physical finding. High follicle-stimulating hormone (FSH, 70 mIU/mL) and moderately elevated luteinizing hormone (LH, 40 mIU/mL) were found; the FSH and LH response to LH-RH was exaggerated. Androgen and estrogen levels were normal. The insulin test (measure of glycemia, growth hormone, and corticol) and the test with TRH (measure of TSH and prolactin) gave normal results. We conclude that the presence of additional long arms of the X chromosome is sufficient to cause Klinefelter syndrome and that the presence of two extra Xq does not intensify the degree of androgenic insufficiency.
我们研究了一名克兰费尔特综合征患者的内分泌功能，其额外的染色体为等臂染色体Xq。该男子无精子症，但具有正常的第二性征；睾丸小是唯一异常的体格检查发现。发现促卵泡激素（FSH，70 mIU/mL）水平高，黄体生成素（LH，40 mIU/mL）中度升高；FSH和LH对LH-RH的反应增强。雄激素和雌激素水平正常。胰岛素试验（测量血糖、生长激素和皮质醇）以及促甲状腺激素释放激素试验（测量促甲状腺激素和催乳素）结果正常。我们得出结论，X染色体额外长臂的存在足以导致克兰费尔特综合征，且两条额外的Xq不会加剧雄激素缺乏的程度。
