Analysis of a pitfall in congenital adrenal hyperplasia newborn screening: evidence of maternal use of corticoid detected on dried blood spot

in Endocrine Connections
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  • 1 M Houang, Laboratoire des Explorations Fonctionnelles Endocriniennes, Hôpital Armand Trousseau, AP-HP Sorbonne Université, Paris, France, APHP, Paris, France
  • | 2 T Nguyen Khoa, Centre Régional de Dépistage Néonatal-Ile de France, Hôpital Necker-Enfants Malades, AP-HP Centre Université de Paris, Paris, France, APHP, Paris, France
  • | 3 T Eguether, Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine : Département de Métabolomique Clinique, Hôpital Saint-Antoine, AP-HP Sorbonne Université, Paris, France, Sorbonne Universite, Paris, France
  • | 4 B Ribaut, Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine : Département de Métabolomique Clinique, Hôpital Saint-Antoine, AP-HP Sorbonne Université, Paris, France France, APHP, Paris, France
  • | 5 S Brabant, 4Laboratoire d’Explorations Fonctionnelles, Hôpital Necker-Enfants Malades, AP-HP Centre Université de Paris, Paris, France., APHP, Paris, France
  • | 6 M Polak, Pediatric endocrinology gynecology and diabetology, Hôpital universitaire Necker-Enfants malades, Paris, 75015, France
  • | 7 I Netchine, Laboratoire des Explorations Fonctionnelles Endocriniennes, Hôpital Armand Trousseau, AP-HP Sorbonne Université, Paris, France, AP-HP, Paris, France
  • | 8 A Lamaziere, Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine : Département de Métabolomique Clinique, Hôpital Saint-Antoine, AP-HP Sorbonne Université, Paris, France, Sorbonne University, Paris, France

Correspondence: Antonin Lamaziere, Email: antonin.lamaziere@aphp.fr
Open access

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.

 

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