Concurrent Confirmation and Differential Diagnosis of Congenital Adrenal Hyperplasia from Dried Blood Spots: Application of a Second-Tier LC-MS/MS Assay in a Cross-Border Cooperation for Newborn Screening

Péter Monostori,Pál Szabó,Otilia Marginean,Csaba Bereczki,Eszter Karg

Concurrent Confirmation and Differential Diagnosis of Congenital Adrenal Hyperplasia from Dried Blood Spots: Application of a Second-Tier LC-MS/MS Assay in a Cross-Border Cooperation for Newborn Screening

2015

Péter Monostori
Pál Szabó
Otilia Marginean
Csaba Bereczki
Eszter Karg

Background/Aims: Newborn screening for congenital adrenal hyperplasia (CAH) is generally performed using 17- hydroxyprogesterone dissociation-enhanced, lanthanide

Keywords:

Congenital adrenal hyperplasia
Internal medicine
Newborn screening
Endocrinology
Diabetes mellitus
Hydroxyprogesterone
Dried Blood Spot Testing
Differential diagnosis
Liquid chromatography–mass spectrometry
Medicine
Steroid 21-Hydroxylase
dried blood
reference standards
lc ms ms

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