Newborn Screening for Congenital Adrenal Hyperplasia in New Zealand, 1994–2013

Abstract

Screening alone accounted for nearly 50% cases of CAH detected in the newborn period, including a fifth of affected females, indicating that clinical diagnosis is unreliable in both genders. Symptoms were mild at diagnosis and there were no adrenal crises. This study confirms the benefits of newborn CAH screening.