Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.
Methods Mol Biol. 2022;2546:451-457. doi: 10.1007/978-1-0716-2565-1_40.
Congenital adrenal hyperplasia (CAH) is a group of autosomal-recessive disorders due to deficiency of 11- or 21-hydroxylase. The analysis of cortisol, androstenedione, 17-hydroxyprogesterone (OHPG), dehydroepiandrosterone (DHEA), 11-deoxycortisol, and testosterone is generally performed in the diagnosis and/or follow-up of CAH. Analysis of specific steroids is also performed in other disorders such as evaluation of hirsutism or infertility in females and hypogonadism in males. Cortisol is generally analyzed by immunoassays, whereas other hormones are preferably assayed by liquid chromatography-tandem mass spectrometry (LC-MS/MS). A multiple reaction monitoring, positive mode atmospheric pressure chemical ionization, LC-MS/MS method is described for the simultaneous quantification of androstenedione, 17-hydroxyprogesterone, DHEA, 11-deoxycortisol and testosterone. The method involves addition of labeled internal standards to serum samples and extraction of steroids in methyl tert-butyl ether. The extract is evaporated under stream of nitrogen, and the residue is reconstituted in methanol and analyzed by LC-MS/MS.
先天性肾上腺皮质增生症 (CAH) 是一组常染色体隐性遗传疾病,由于 11-β 或 21-羟化酶缺乏所致。皮质醇、雄烯二酮、17-羟孕酮 (OHPG)、脱氢表雄酮 (DHEA)、11-脱氧皮质醇和睾酮的分析通常用于 CAH 的诊断和/或随访。在其他疾病中也会进行特定类固醇的分析,如女性多毛症或不孕以及男性性腺功能减退症的评估。皮质醇通常通过免疫分析进行分析,而其他激素则优选通过液相色谱-串联质谱 (LC-MS/MS) 进行分析。本文描述了一种用于同时定量检测雄烯二酮、17-羟孕酮、DHEA、11-脱氧皮质醇和睾酮的多重反应监测、正离子大气压化学电离、LC-MS/MS 方法。该方法涉及向血清样品中添加标记的内标,并在甲基叔丁基醚中提取类固醇。提取物在氮气流下蒸发,残留物用甲醇重新溶解并通过 LC-MS/MS 进行分析。