[一例48 XXYY克氏综合征病例]
[A case of 48 XXYY Klinefelter's syndrome].
作者信息
Ikegami M, Hashimoto K, Onishi N, Iguchi M, Kiwamoto H, Kurita T
机构信息
Department of Urology, Kaizuka Municipal Hospital.
出版信息
Nihon Hinyokika Gakkai Zasshi. 1994 Dec;85(12):1781-3. doi: 10.5980/jpnjurol1989.85.1781.
We observed a patient with 48 XXYY Klinefelter syndrome who visited our hospital because of a short penis as chief complaint. The patient was a 21-year-old, tall and obese man. He had gynecomastia. The penis was short and bilateral testes were underdeveloped. Endocrinologically the LH and FSH showed high level and the testosterone was low. A diagnosis of very rare 48 XXYY Klinefelter was made based of the chromosomal analysis.
我们观察到一名患有48 XXYY克氏综合征的患者，他因阴茎短小为主诉前来我院就诊。该患者为一名21岁的高大肥胖男性。他有男性乳房发育症。阴茎短小，双侧睾丸发育不全。内分泌检查显示促黄体生成素（LH）和促卵泡生成素（FSH）水平升高，睾酮水平降低。基于染色体分析，诊断为非常罕见的48 XXYY克氏综合征。
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