Astrid Thilén

TL;DR: The results confirm that genotyping is an efficient means of diagnosing steroid 21-hydroxylase deficiency, although special consideration is needed to resolve genotypes when full families are not available.

TL;DR: It is suggested that, contrary to current belief, boys and girls with salt-wasting congenital adrenal hyperplasia were equally missed clinically, and neonatal screening improved detection of the salt-Wasting form in girls as well as boys, saving lives in both sexes.

TL;DR: The benefits of newborn screening for CAH were prevention of severe adrenal crisis, its sequela, incorrect male sex assignment of severely virilized female newborns, and progressive signs of androgen excess.

TL;DR: The main benefits of screening were avoidance of serious salt loss crises, earlier correct gender assignment in virilized girls, and detection of patients who would have otherwise been missed in the neonatal period.

TL;DR: Genotyping is a valuable diagnostic tool and a good complement to neonatal screening, especially in confirming or discarding the diagnosis in cases with slightly elevated 17-hydroxyprogesterone levels, and provides information on disease severity, which reduces the risk of overtreatment of mildly affected children.