Department of Laboratory Medicine, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
Division of Human Genetics, Center for Biomedical Research (CEBIOR), Faculty of Medicine Diponegoro University, Semarang, Indonesia.
Clin Endocrinol (Oxf). 2023 Jan;98(1):41-48. doi: 10.1111/cen.14754. Epub 2022 May 15.
Patients with congenital adrenal hyperplasia (CAH) in developing countries have limited access to appropriate laboratory facilities for diagnosis and follow-up. The aim of this study is to evaluate steroid measurement in hair as a diagnostic tool to identify and monitor CAH in these patients.
A method was developed to measure steroids in hair, the stability of steroids in hair was assessed, and the concentration range in healthy volunteers was determined. Hair samples of patients, before and after starting therapy, were transported at ambient temperature to The Netherlands for analysis.
Twenty-two Indonesian CAH patients and 84 healthy volunteers participated.
Cortisol, 17-hydroxyprogesterone (17OHP), androstenedione, and testosterone in hair were measured by liquid chromatography with tandem mass spectrometry.
Steroids in hair could be measured and remained stable (<4.9% deviation) for at least 3 weeks at 4°C and 30°C. In each of the untreated patients, hair concentrations of 17OHP (9.43-1135 pmol/g), androstenedione (36.1-432 pmol/g), and testosterone (2.85-69.2 pmol/g) were all above the upper limit of the corresponding range in healthy volunteers; 5.5 pmol/g, 13 pmol/g, and 1.8 pmol/g, respectively. After starting glucocorticoid treatment, the steroid concentrations in the hair of CAH patients decreased significantly for androstenedione (73%) and testosterone (59%) after 6 months.
CAH could be confirmed in Indonesian patients based on the concentration of 17OHP, androstenedione, and testosterone in hair, and a treatment effect was observed. These findings open up opportunities to diagnose and/or monitor CAH in developing countries with a simple noninvasive technique.
发展中国家的先天性肾上腺皮质增生症（CAH）患者获得适当的诊断和随访实验室设施的机会有限。本研究旨在评估毛发类固醇测量作为一种诊断工具，以识别和监测这些患者的 CAH。
开发了一种测量毛发中类固醇的方法，评估了类固醇在毛发中的稳定性，并确定了健康志愿者的浓度范围。患者的毛发样本在开始治疗前和治疗后，以常温运至荷兰进行分析。
22 名印度尼西亚 CAH 患者和 84 名健康志愿者参与了研究。
通过液相色谱-串联质谱法测量毛发中的皮质醇、17-羟孕酮（17OHP）、雄烯二酮和睾酮。
毛发中的类固醇可以被测量，并且在 4°C 和 30°C 下至少稳定 3 周（<4.9%的偏差）。在每个未经治疗的患者中，17OHP（9.43-1135 pmol/g）、雄烯二酮（36.1-432 pmol/g）和睾酮（2.85-69.2 pmol/g）的毛发浓度均高于健康志愿者相应范围的上限；分别为 5.5 pmol/g、13 pmol/g 和 1.8 pmol/g。在开始糖皮质激素治疗后，CAH 患者的毛发中雄烯二酮（73%）和睾酮（59%）的类固醇浓度在 6 个月后显著降低。
根据毛发中 17OHP、雄烯二酮和睾酮的浓度，可以在印度尼西亚患者中确认 CAH，并观察到治疗效果。这些发现为使用简单的非侵入性技术在发展中国家诊断和/或监测 CAH 提供了机会。
