女性睾酮检测中假阳性问题及质谱法的确诊价值

doi:10.19723/j.issn.1671-167X.2026.02.017

摘要/Abstract

摘要：

目的: 分析化学发光免疫分析法(chemiluminescence immunoassay, CLIA)测定女性睾酮水平假性升高的比例，并评估液相色谱-串联质谱法(liquid chromatography-tandem mass spectrometry，LC-MS/MS)在提高女性睾酮检测准确性中的应用价值。方法: 回顾性收集2020年1月1日至2024年5月1日就诊于北京大学人民医院，采用了CLIA检测睾酮水平升高并再次采集血样进行LC-MS/MS检测的女性患者。根据LC-MS/MS检测结果，将患者分为假性升高组和真性升高组，比较两组睾酮水平的差异，计算CLIA的假阳性率，并分析假性升高组进一步的检查情况。结果: 共纳入287例CLIA检测睾酮水平升高的女性患者，根据LC-MS/MS的结果，178例(62.0%)被归类为假性升高组，109例(38.0%)被归类为真性升高组，两组睾酮水平(CLIA检测结果)的均值分别为(3.63±1.60) nmol/L和(4.13±2.20) nmol/L，差异有统计学意义(P < 0.05)。CLIA检测女性睾酮水平的假阳性率为62.0%，受试者工作特征(receiver operating characteristic, ROC)曲线下面积(area under the curve，AUC)为0.601(95%CI：0.534~0.668)，提示其诊断准确性较低。假性升高组中，40.45%的患者接受了多次CLIA复测，部分患者接受了不必要的临床评估，包括影像学和激素检查，增加了患者负担。结论: CLIA在女性睾酮检测中的假阳性率较高，假阳性结果可能导致误诊、重复检测和不必要的其他相关检查，增加了患者负担和医疗资源浪费；LC-MS/MS可显著提高女性睾酮水平评估的准确性，建议在CLIA检测睾酮水平升高的女性患者中优先采用LC-MS/MS进行确诊。

关键词: 雄激素增多症, 睾酮, 化学发光免疫分析法, 液相色谱-串联质谱法, 假阳性

Abstract:

Objective: To investigate the proportion of pseudo-elevated testosterone levels detected by chemiluminescent immunoassay (CLIA) in female patients and to evaluate the application value of liquid chromatography-tandem mass spectrometry (LC-MS/MS) in improving the accuracy of testosterone detection in this population. Methods: A retrospective analysis was conducted on data collected from female patients who presented at Peking University People' s Hospital from January 1, 2020 to May 1, 2024. These patients were initially identified with elevated testosterone levels through CLIA and subsequently underwent additional blood sampling for confirmatory testing using LC-MS/MS. Based on LC-MS/MS results, the patients were categorized into the pseudo-elevated group and the true-elevated group. Dif-ferences in the testosterone levels between the two groups were compared, the false-positive rate of CLIA was calcula-ted, and further evaluations conducted in the pseudo-elevated group were analyzed. Results: A total of 287 female patients with elevated testosterone levels detected by CLIA were included in the study. According to the LC-MS/MS results, 178 cases (62.0%) were classified into the pseudo-elevated group, while 109 cases (38.0%) were classified into the true-elevated group. The mean testosterone levels measured by CLIA were (3.63±1.60) nmol/L in the pseudo-elevated group and (4.13±2.20) nmol/L in the true-elevated group, showing a statistically significant difference (P < 0.05). The false-positive rate of CLIA in detecting testosterone levels in women was 62.0%, and the area under the receiver operating characteristic (ROC) curve (AUC) for CLIA was 0.601 (95%CI: 0.534-0.668) indicating low diagnostic accuracy. Among the pseudo-elevated group, 40.45% of patients underwent multiple CLIA retests, and some patients were subjected to unnecessary clinical evaluations, including imaging and hormonal testing, which significantly increased patient burden. Conclusion: This study highlights the high false-positive rate of CLIA in detecting testosterone levels in female patients, which can result in misdiagnosis, repeated testing, and unnecessary clinical evaluations, thereby increasing patient burden and resulting in inefficient use of medical resources.LC-MS/MS significantly enhances the accuracy of testosterone detection in women and is strongly recommended as the confirmatory test for female patients with elevated testosterone levels initially detected by CLIA.

Key words: Hyperandrogenism, Testosterone, Chemiluminescent immunoassay, Liquid chromatography-tandem mass spectrometry, False positive

中图分类号:

R588

吴曼, 罗樱樱, 纪立农. 女性睾酮检测中假阳性问题及质谱法的确诊价值[J]. 北京大学学报（医学版）, 2026, 58(2): 332-336.

Man WU, Yingying LUO, Linong JI. False positives in female testosterone testing and the diagnostic value of mass spectrometry[J]. Journal of Peking University (Health Sciences), 2026, 58(2): 332-336.

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Evaluation items	Cases, n (%)	Results or special conditions
Testosterone retesting (CLIA)	72 (40.45)	Up to 9 retests
Diagnosed with PCOS	61 (34.27)	28 cases (45.90%) with polycystic ovaries on ultrasound, 33 cases (54.10%) without
BG	149 (83.71)	128 normal cases (85.91%), 21 cases (14.09%) diagnosed with diabetes or elevated blood sugar
Insulin	121 (67.98)	115 normal cases (95.04%), 3 elevated cases (2.48%), 3 decreased cases (2.48%)
Cortisol	178 (100.00)	18 elevated cases (10.11%), retests normal; 42 decreased cases (23.60%), retests normal
ACTH	63 (35.39)	7 elevated cases (11.11%), retests normal
IGF-1	19 (10.67)	3 elevated cases (15.79%), 2 retests normal
GH	10 (5.62)	9 normal cases (90.00%), 1 elevated (10.00%)
Thyroid function	142 (79.78)	22 cases (15.79%) with abnormal thyroid function
Gynecological ultrasound	132 (74.16)	28 cases (21.21%) with polycystic changes, 30 cases (22.73%) with uterine fibroids
Adrenal ultrasound	18 (10.11)	No significant abnormalities in all cases (100.00%)
Adrenal CT	18 (10.11)	10 cases (55.56%) with no significant abnormalities, 8 cases (44.44%) with adrenal nodules or thickening
Thyroid ultrasound	30 (16.85)	19 cases (63.33%) with thyroid nodules, 9 cases (30.00%) with diffuse changes, 6 cases (20.00%) with heterogeneous echogenicity, 4 cases (13.33%) with no abnormalities

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