Searchable abstracts of presentations at key conferences in endocrinology

ea0024oc2.4 | Oral Communications 2 (Brief Communications) | BSPED2010

Morbidity and Mortality of Infants with Salt Wasting Congenital Adrenal Hyperplasia in an Unscreened Population

Hird B E , Patel L , Tobi S , Clayton P E

Due to the non-specificity of symptoms in male neonates affected by salt-wasting (SW) CAH, it is hypothesised that a proportion die prior to diagnosis in countries lacking a newborn screening (NBS) programme, such as the UK. The aim of this study was to analyse 17-hydroxyprogesterone (17-OHP) in stored NBS blood spot samples, to detect undiagnosed cases of CAH. Samples were retrieved from storage for neonates who were born between 1994 and 2006, who subsequently died before 7 ...