Congenital adrenal hyperplasia (CAH) is a recessively inherited deficiency of cortisol production affecting an estimated 1 in 10 00020 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 cortisol and mineralocorticoid replacement can prevent life-threatening episodes, and ensure normal growth and sexual development in older children. Although some countries undertake screening for CAH as part of the newborn bloodspot programme, it has not been introduced in the UK, reflecting uncertainty regarding disease burden as well as the high false positive rate associated with the existing screening test. Prospective surveillance of all new diagnoses of CAH in British children was undertaken through the British Paediatric Surveillance Unit in order to determine the incidence of CAH and burden of disease, including short-term health outcomes, and to assess the potential benefit of introducing newborn screening for CAH in the UK.
Declaration funding: Department of Health commissioned by the UK National Screening Committee.
13 Nov 2013
British Society for Paediatric Endocrinology and Diabetes