Klinefelter syndrome presenting as behavioral problems in a young adult.

Klinefelter syndrome presenting as behavioral problems in a young adult.
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DOI:
10.1038/nrendo.2010.186
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发表时间:
2010-12
期刊:
Nature reviews. Endocrinology
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其他
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一名18岁的索马里男子到初级保健诊所调查过去1-2年中在学校出现的行为问题的潜在病理生理原因。此前在学校进行的体检显示,患者的睾丸小而结实,这促使他进行了进一步的检查。测定甲状腺功能及催乳素、总睾酮、促卵泡激素和黄体生成素水平。测量睾丸。进行染色体分析试验以确定患者的核型。Klinefelter综合征,核型为47,xxy。建议使用睾酮替代疗法,但患者拒绝治疗。
An 18-year-old Somali man presented to a primary care clinic to investigate a potential pathophysiological reason for behavioral problems at school that had arisen in the past 1–2 years. A previous physical examination at school revealed the patient to have small, firm testicles which prompted further testing. Thyroid function and levels of prolactin, total testosterone, follicle-stimulating hormone and luteinizing hormone were determined. Testes were measured. Chromosome analysis testing was performed to determine the patient’s karyotype. Klinefelter syndrome with a 47,XXY karyotype. Testosterone replacement therapy was recommended, but the patient declined treatment.
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