Department of Nephrology and Hypertension and Department of BioMedical Research, Inselspital, Bern University Hospital, University of Bern, Switzerland.
Department of Nephrology and Hypertension and Department of BioMedical Research, Inselspital, Bern University Hospital, University of Bern, Switzerland.
J Steroid Biochem Mol Biol. 2020 Jun;200:105662. doi: 10.1016/j.jsbmb.2020.105662. Epub 2020 Mar 21.
Urinary steroid profiling is commonly used in clinical routine for the diagnosis of steroid-related diseases through the analysis of absolute steroid excretion values as well as apparent enzyme activities based on catalysed product-to-precursor ratios. To compensate for diurnal fluctuations in steroid concentrations, 24 hour collections are preferred yet impractical and sometimes not feasible. We therefore measured 40 steroid metabolites by GC-MS in 24 hour and spot urine samples of healthy volunteers and systematically evaluated to which extent 24 hour urine collections can be replaced by spot urine collections for diagnostic purposes. Whereas most steroid concentrations show poor correlation between 24 hour and spot urine collection, apparent enzyme activities show better correlation and defects in steroidogenic enzymes such as SRD5A2, CYP17A1, CYP21A2 and CYP11B1. We confirmed our findings in patient samples from our clinic.
尿甾体谱分析常用于临床常规，通过分析绝对甾体排泄值以及基于催化产物与前体比率的表观酶活性来诊断与甾体相关的疾病。为了补偿甾体浓度的昼夜波动，首选 24 小时采集，但不实际且有时不可行。因此，我们通过 GC-MS 测量了健康志愿者 24 小时和随机尿样中的 40 种甾体代谢物，并系统评估了 24 小时尿收集在多大程度上可以替代随机尿收集用于诊断目的。虽然大多数甾体浓度在 24 小时和随机尿收集之间相关性较差，但表观酶活性显示出更好的相关性，并且甾体生成酶如 SRD5A2、CYP17A1、CYP21A2 和 CYP11B1 的缺陷。我们在我们诊所的患者样本中证实了我们的发现。
