Confirmation and differential diagnosis of congenital adrenal hyperplasia from dried blood spots by UHPLC‑MS/MS

Monostori, Péter and Szabó, Pál and Marginean, Otilia and Bereczki, Csaba and Karg, Eszter: Confirmation and differential diagnosis of congenital adrenal hyperplasia from dried blood spots by UHPLC‑MS/MS. Proceedings of the International Symposium on Analytical and Environmental Problems, (21). pp. 48-51. (2015)

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Abstract

Newborn screening for congenital adrenal hyperplasia (CAH) has high false-positive rates, necessitating confirmation of primary results. We developed a single LC-MS/MS assay for dried blood spots (DBS) that allows concurrent confirmation and differential diagnosis of CAH. All five steroids (cortisol, 21-deoxycortisol, 11-deoxycortisol, 4-androstenedione and 17-hydroxyprogesterone) were baseline resolved and reliably determined (UHPLC: PerkinElmer Flexar FX-10; MS/MS: ABSCIEX QTRAP 5500; column: Phenomenex Kinetex XB-C18). In Hungary-Romania Cross-Border Cooperation Project (HU-RO 0802/008 SCREENGEN), the 21-hydroxylase deficient form of CAH was confirmed in one of a total of 163 samples tested positive in primary screening. Our validated assay can use the same DBS as in primary screening (2nd-tier test), eliminating the need for repeated blood sampling and accelerating diagnosis.

Item Type: Article
Journal or Publication Title: Proceedings of the International Symposium on Analytical and Environmental Problems
Date: 2015
Volume: 21
Page Range: pp. 48-51
ISBN: 978-963-306-411-5
Uncontrolled Keywords: Mellékvesebetegségek, Adrenogenitális szindróma, Öröklött betegségek, Hormon
Additional Information: Bibliogr.: 51. p. ; összefoglalás angol nyelven
Date Deposited: 2018. Dec. 05. 10:13
Last Modified: 2018. Dec. 05. 10:13
URI: http://acta.bibl.u-szeged.hu/id/eprint/55925

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