Endocrine Abstracts

Congenital adrenal hyperplasia (CAH) is a recessively inherited deficiency of cortisol production affecting an estimated 1 in 10 000–20 000 live births. The salt-wasting form, which is found in over half of all children with CAH, may present with a potentially life-threatening crisis in with the newborn period while associated excess androgen production may result in girls being incorrectly assigned as boys at birth. Early detection by newborn screening, combined with cor...

Background: Congenital adrenal hyperplasia (CAH) is a recessively inherited deficiency of cortisol production associated with life-threatening adrenal crisis, accelerated growth and excess virilising hormone production, which may result in girls being incorrectly assigned as boys at birth. Newborn screening for CAH has not been introduced in the UK, reflecting concerns about false positive diagnoses, as well as inconsistent information about disease frequency and severity. A n...