Article
Hormonal disturbances due to severe and mild forms of congenital adrenal hyperplasia are already detectable in neonatal life.
Acta paediatrica (Oslo, Norway : 1992) - 1 Feb 2015
Faurschou Signe, Mouritsen Annette, Johannsen Trine H, Hougaard David M, Cohen Arieh, Duno Morten, Juul Anders, Main Katharina M
Abstract excerpt
AIM: National screening programmes for congenital adrenal hyperplasia now include measuring several adrenal metabolites using highly sensitive liquid chromatography-tandem mass spectrometry. The aim of this study was to compare neonatal hormonal profiles - whole blood concentrations of 17α-hydroxyprogesterone, androstenedione, and cortisol - with genotypes in 21-hydroxylase deficiency. METHODS: The study included...
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