Pediatric Research ( IF 3.1 ) Pub Date : 2021-09-23 , DOI: 10.1038/s41390-021-01739-5 Ece Oge Enver 1 , Pinar Vatansever 2 , Omer Guran 3 , Leyla Bilgin 3 , Perran Boran 4 , Serap Turan 5 , Goncagul Haklar 2 , Abdullah Bereket 5 , Tulay Guran 5
Background
Interpretation of the results of steroid hormone measurements is challenging at early infancy. The liquid chromatography-tandem mass spectrometry (LC-MS/MS) method provides a powerful tool for diagnosing steroidogenesis disorders. We aimed to develop normative data for a 14-steroid panel and four adrenal enzyme activity indices, determined by LC-MS/MS from 3 days to 6 months of age.
Methods
Age- and sex-specific plasma steroid concentrations were calculated in 324 healthy full-term neonates and infants (151 females). Percentile curves were devised. Steroid ratios were evaluated as biomarkers of adrenal enzyme activities. The steroid profiles of four patients with adrenal enzyme deficiencies were included to test the diagnostic efficiency.
Results
Nine steroids showed age, but none showed sex specificity. The concentrations of progestins and androgens were higher at 7–14 days than at 3–7 days. After the first month, adrenal androgen concentrations decreased significantly. Adrenal enzyme activities changed towards increasing cortisol over the first 6 months. There were several-fold differences in diagnostic steroids and related adrenal enzyme activity indices between the patients and the healthy group.
Conclusions
The majority of adrenal steroids show age-related variations in the neonatal period and early infancy. Our data will enable accurate interpretation of steroid measurements for etiologic diagnosis of disorders of steroidogenesis.
Impact
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LC-MS/MS method is capable of quantitating numerous analytes simultaneously, which provides an integrated picture of adrenal steroidogenesis in a small amount of sample.
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The development of LC-MS/MS-based normative data of steroid hormones in healthy infants is crucial to differentiate physiologic alterations from steroidogenic defects during the first 3–6 months of infancy.
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Previous studies had limitations due to the small numbers of samples available by sex and by age groups.
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Our detailed normative data and percentile curves will enable accurate interpretation of steroid measurements for etiologic diagnosis of disorders of steroidogenesis without the need for further invasive testing.
中文翻译：
由 LC-MS/MS 确定的婴儿期肾上腺类固醇参考范围
背景
在婴儿早期，对类固醇激素测量结果的解释具有挑战性。液相色谱-串联质谱 (LC-MS/MS) 方法为诊断类固醇生成障碍提供了强有力的工具。我们的目标是开发 14 类固醇组和 4 种肾上腺酶活性指数的规范数据，由 LC-MS/MS 确定，从 3 天到 6 个月大。
方法
计算了 324 名健康足月新生儿和婴儿（151 名女性）的年龄和性别特异性血浆类固醇浓度。设计了百分位曲线。类固醇比率被评估为肾上腺酶活性的生物标志物。包括四名肾上腺酶缺乏症患者的类固醇谱以测试诊断效率。
结果
九种类固醇显示年龄，但没有显示出性别特异性。孕激素和雄激素的浓度在 7-14 天高于 3-7 天。第一个月后，肾上腺雄激素浓度显着下降。肾上腺酶活性在前 6 个月内朝着增加皮质醇的方向变化。患者和健康组在诊断类固醇和相关肾上腺酶活性指标方面存在数倍差异。
结论
大多数肾上腺类固醇在新生儿期和婴儿早期表现出与年龄相关的变化。我们的数据将使类固醇测量的准确解释能够用于类固醇生成障碍的病因诊断。
影响
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LC-MS/MS 方法能够同时定量多种分析物，从而提供少量样品中肾上腺类固醇生成的综合图像。
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建立基于 LC-MS/MS 的健康婴儿类固醇激素规范数据对于区分婴儿前 3-6 个月的生理变化和类固醇生成缺陷至关重要。
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由于按性别和年龄组提供的样本数量较少，以前的研究存在局限性。
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我们详细的规范数据和百分位曲线将使类固醇测量的准确解释能够准确解释类固醇生成障碍的病因诊断，而无需进一步的侵入性测试。
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