Endocrinology & Metabolism, Medical College and Hospital Kolkata, Kolkata, West Bengal, India.
Endocrinology & Metabolism, Medical College and Hospital Kolkata, Kolkata, West Bengal, India
BMJ Case Rep. 2020 Sep 7;13(9):e235450. doi: 10.1136/bcr-2020-235450.
Liquid chromatography-mass spectrometry, the gold standard method for cortisol measurement, is expensive and not widely available in the developing countries. Chemiluminescent immunoassay, commonly used for cortisol measurement is prone to clinically meaningful inter-assay variability in some analysers. This occurs due to non-specific nature of anticortisol antibodies used in different platforms, having cross reactivity with structurally similar cortisol precursors like 17α-hydroxyprogesterone (17OHP), 11-deoxycortisol and 21-deoxycortisol. In patients with 21-hydroxylase deficiency, where 17OHP and 21-deoxycortisol are significantly elevated, older generation machines like Siemens Advia Centaur XP provide spuriously high cortisol concentration compared with values measured by Roche Cobas e 411 or Siemens Immulite 1000. Diagnosis of potentially life-threatening salt-wasting 21-hydroxylase deficiency may be missed and treatment may be delayed due to such interference. Two children with classic 21-hydroxylase deficiency are being reported here, in whom high cortisol values were observed in Siemens Advia Centaur XP system.
液相色谱-质谱法是皮质醇测量的金标准方法,但在发展中国家价格昂贵且普及度不高。化学发光免疫分析是常用的皮质醇测量方法,但在某些分析仪中易出现有临床意义的测定间变异性。这种情况的发生是由于不同平台中使用的抗皮质醇抗体的非特异性,与结构相似的皮质醇前体如 17α-羟孕酮(17OHP)、11-去氧皮质醇和 21-脱氧皮质醇有交叉反应。在 21-羟化酶缺乏症患者中,17OHP 和 21-脱氧皮质醇显著升高,与罗氏 Cobas e 411 或西门子 Immulite 1000 测量的值相比,西门子 Advia Centaur XP 等旧一代仪器提供的皮质醇浓度会出现假性升高。由于这种干扰,可能危及生命的盐耗性 21-羟化酶缺乏症的诊断可能会被遗漏,治疗可能会被延迟。本文报告了两例经典 21-羟化酶缺乏症患儿,在西门子 Advia Centaur XP 系统中观察到高皮质醇值。