Cover image for Congenital Adrenal Hyperplasia Condition Assessment Summary


Newborn Bloodspot Screening condition assessment summary – congenital adrenal hyperplasia

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Publication date: 
March 2019
Last updated: 
10 November 2020
Publication type: 
Intended audience: 
Health sector

Congenital adrenal hyperplasia (CAH) is a rare genetic condition that affects around 1 in 15,000 people in Australia. The condition affects the production of hormones from the adrenal glands.

This report outlines the evidence used to provide a national recommendation on adding CAH to Australian newborn bloodspot screening programs. It recommends adding CAH to the programs.