Diagnosis and prevalence of Congenital Adrenal Hyperplasia (CAH) in Austrian children screened or not screened for CAH

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Prevalence of Congenital Adrenal Hyperplasia (CAH) is not exactly known in Austria, a number of patients with CAH might not be diagnosed, especially males. CAH is in about 95 % of the cases due to a defect in the 21-hydroxylation (classical CAH).
Newborn screening for CAH, based on the measurement of 17 a-hydroxyproges-terone (17-OHP) was shown to be efficient for diagnosis, and is part of the newborn screening programme in Austria since April 2001.


The study:
In our study we compared 2 groups of children:

  • Group A, children born in Styria (a province of Austria), 1992-2001, n = 119.001, m 61.256, and f 57.745;
  • Group B, children born in Styria 2002– 2011, n =103.228, m 52.722, and f 50.506

In group A (patients not screened), CAH was diagnosed in 8 children (m 4; f 4); 4 of them with simple virilising (SV) 21-OH deficiency (m 3; f 1) and 4 with salt wasting (SV) 21-OH deficiency (m 1; f 3).
In group B, 98,7 % of all newborns born in Styria could be screened by measuring 17-OHP in a dried blood spot on filter paper. Recall rate was 0,578 %. CAHwas diagnosed in 10 children (m 3: f 7). 8 of them with SW (m 2; f 6), and 2 with 11 b-hydroxylase deficiency (m 1; f 1). Whereas group A displayed the expected Mendelian sex ratio, group B showed a strong female predominance (m 3; f 7). Prevalence of CAH was 1:14.875 newborns in group A
(not screened). In group B (newborns screened) prevalence was 1:10.132.
If one exclude the 2 patients with 11ß-hydroxylase deficiency from group B, prevalence of ‘classical CAH’ was 1:14.875 in group A, compared to 1:12.903 in Group B. These data show that newborn screening for CAH seems to increase the rate of detection of CAH.


Katharina Luxenberger 1,  David Kasper 2, Elke Fröhlich-Reiterer 1, Elisabeth Suppan 1, Gudrun Weinhandl 1, Martin Borkenstein 1*
1 Departments of Pediatrics and Adolescence Medicine, Medical Universities Graz, Graz, Austria
2 Departments of Pediatrics and Adolescence Medicine, Medical Universities Vienna, Vienna, Austria
*corresponding author

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