Houang Muriel, Nguyen-Khoa Thao, Eguether Thibaut, Ribault Bettina, Brabant Séverine, Polak Michel, Netchine Irène, Lamazière Antonin
Laboratoire des Explorations Fonctionnelles Endocriniennes, Hôpital Armand Trousseau, AP-HP Sorbonne Université, Paris, France.
Centre Régional de Dépistage Néonatal-Ile de France, Hôpital Necker-Enfants Malades, AP-HP Centre Université de Paris, Paris, France.
Endocr Connect. 2022 Jun 15;11(6):e220101. doi: 10.1530/EC-22-0101.
Neonatal screening for congenital adrenal hyperplasia (CAH) faces many specific challenges. It must be done using a performant analytical approach that combines sensitivity and specificity to capture the potential causes of mortality during the first week of life, such as salt wasting and glucocorticoid deficiency. Here, we confirm that maternal inhaled corticosteroid intake during pregnancy is a possible cause of missed CAH diagnosis. Thanks to liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS) analysis, we were able to quantify endogenous steroid metabolites and also detect the presence of exogenous steroids in the dried blood spot of a newborn. Adding LC-MS/MS analysis as second-tier test, especially one that includes both 17-hydroxyprogesterone and 21-deoxycortisol measurements, would probably improve CAH diagnosis. In familial neonatal screening one could also look for maternal corticosteroid therapies that are hidden to prevent false-negative tests.
新生儿先天性肾上腺皮质增生症（CAH）筛查面临诸多特殊挑战。必须采用一种高效的分析方法，该方法要兼具敏感性和特异性，以找出出生后第一周内潜在的致死原因，比如失盐和糖皮质激素缺乏。在此，我们证实孕期母亲吸入皮质类固醇是导致CAH漏诊的一个可能原因。借助液相色谱串联质谱（LC-MS/MS）分析，我们能够对内源性类固醇代谢物进行定量，还能在新生儿干血斑中检测出外源性类固醇的存在。将LC-MS/MS分析作为二线检测手段，尤其是同时检测17-羟孕酮和21-脱氧皮质醇的方法，可能会改善CAH的诊断。在家族性新生儿筛查中，还可以排查为防止假阴性检测而隐瞒的母亲皮质类固醇治疗情况。
