Experts call for newborn adrenal hyperplasia test

NEWBORNS should be screened for congenital adrenal hyperplasia (CAH) to prevent  the consequences of this uncommon but manageable endocrine disorder, a group of specialists say.

In an article in the MJA, the researchers from the Mater hospitals, Brisbane, pointed to screening programs in countries including New Zealand, the US and Canada.

The researchers said CAH affected one in 14,000 newborns, about the same rate as phenylketonuria (PKU).

CAH is caused by impaired cortisol production and has two main types, one leading to salt wasting due to a lack of aldosterone at around 1–3 weeks of age, and the other leading to virilisation.

However, CAH newborn screening has been opposed due to a poor positive predictive value of the test, its expense – at more than $42,700 for each case detected, and a lack of evidence for reducing morbidity and mortality.

Commenting, Martin Silink, professor of paediatric endocrinology