Congenital adrenal hyperplasia (CAH)
Severe forms of CAH may cause life-threatening salt-wasting crisis and virilization in newborns.
The most frequent forms of CAH are caused by mutations in the CYP21A2 gene encoding for steroid 21-hydroxylase.
Disease-causing mutations include single nucleotide variants/point mutations and chromosomal rearrangements such as deletions, duplications and CYP21A1P/CYP21A2 chimeras.
Neonatal CAH-screening based on the assessment of 17-hydroxyprogesterone levels has a high false positive rate.
Genetic second-tier tests have the potential to significantly reduce recall rates.
Minimize risks with early and reliable CAH diagnosis
• Congenital adrenal hyperplasia (CAH) is an inherited disorder of steroid hormone synthesis
• Severe forms of CAH cause life-threatening salt-wasting crisis and virilization in newborns
• Appropriate treatment demands early diagnosis
• Hormone testing has a high false positive rate