Searchable abstracts of presentations at key conferences in endocrinology

ea0017s1 | (1) | BSPED2008

National surveillance of congenital adrenal hyperplasia in children

Knowles R , Khalid M , Oerton J , Hindmarsh P , Kelnar C , Dezateux C

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...