Hormonal disturbances due to severe and mild forms of congenital adrenal hyperplasia are already detectable in neonatal life.

[congenital adrenal hyperplasia]

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 17 Î±-hydroxyprogesterone , androstenedione , and cortisol - with genotypes in 21 -hydroxylase deficiency .The study included 62 patients with congenital adrenal hyperplasia born between 1982 and 2012 and 61 random controls born in 1985 and 2005 . Patients were grouped according to mutation -based predictions of enzyme impairment . Groups Null and A were salt-wasting (n Â =Â 35 ), Group B was simple virilising (n Â =Â 7 ) and Group C was nonclassic (n Â =Â 20 ). Dried blood spot samples were retrieved from the Danish Neonatal Screening Biobank .All patients with molecular verified 21 -hydroxylase deficiency had significantly higher concentrations of 17 Î±-hydroxyprogesterone (p Â <Â 0 .001 ), androstenedione (p Â <Â 0 .001 ) and a higher ratio [(17 Î±-hydroxyprogesterone Â +Â androstenedione )/cortisol , p Â <Â 0 .05 ] than controls . Androstenedione showed a higher sensitivity (72 %) than 17 Î±-hydroxyprogesterone (12 %) to correctly identify Groups B and C .There were significant differences in neonatal hormonal profiles between all groups and controls . This confirms that hormonal disturbances are already detectable in both severe and mild forms of congenital adrenal hyperplasia in neonatal life .