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目的 探讨Klinefelter(Klinefelter syndrome,KS)综合征中小睾丸患者FSH、LH、T水平与KS的关系,以寻求一种简便、快速、可靠的筛查或诊断Klinefelter综合征的方法。方法 临床实验中采用RIA法测定已经染色体核型分析确诊的117例KS患者和其他小睾丸患者血清中的FSH、LH和T水平;分析、比较117例KS患者FSH、LH和T水平有无规律性。结果 实验结果表明仅小睾丸患者中的KS具有FSH、LH值高于或等于其所采用检测方法的正常值上限,T值低于或等于正常值下限水平的特征,其他小睾丸、无精子症患者无此特征。统计学处理结果表明,以染色体核型分析为金标准,用测定生殖激素FSH、LH、T水平“两高一低”诊断KS的效能好(敏感度94.88％,特异度93.48％)。临床应用化学发光法和其他方法测定小睾丸患者血清中的生殖激素,根据FSH、LH、T水平“两高一低”确诊100例KS,与染色体核型分析结果完全符合。结论 患者只要具备(1)FSH、LH值高于(或等于)其所用检测方法的正常值上限、T值低于(或等于)其正常值下限水平;(2)小睾丸(<8mL),即可诊断为KS。
Objective To explore the relationship between the levels of FSH, LH and T in patients with Klinefelter syndrome (Klinefelter syndrome, KS) and KS and to find a simple, rapid and reliable method for screening or diagnosing Klinefelter syndrome. Methods Serum levels of FSH, LH and T were measured by RIA in 117 patients with KS and other small testes who had been diagnosed by karyotype analysis in clinical trials. The levels of FSH, LH and T were compared among 117 KS patients Sex. Results The results of the experiment showed that KS in patients with only small testes had FSH higher than or equal to the upper limit of normal for the test method used, and the T value was lower than or equal to the lower limit of normal, other testicles and azoospermia Patients without this feature. Statistical analysis showed that using karyotype analysis as gold standard, the performance of KS was better (sensitivity 94.88%, specificity 93.48%) in the determination of reproductive hormones FSH, LH, T levels “two highs and one lows”. Clinical application of chemiluminescence and other methods for determination of reproductive hormones in the serum of patients with small testicles, according to FSH, LH, T level “two highs and one low ” diagnosed 100 cases of KS, and chromosome karyotype analysis results in full compliance. CONCLUSIONS Patients should have (1) FSH and an LH value higher than (or equal to) the upper limit of normal for the test method used, with a T-value lower than (or equal to) its lower limit of normal; (2) Can be diagnosed as KS.