ea0036P7 | (1) | BSPED2014
Warner Bronwen
, Prasad Rathi
, Barton John
, Burren Christine
, Henchliffe Jennifer
, Crowne Liz
Congenital adrenal hyperplasia (CAH) has an estimated prevalence of one in 10 00020 000 live births. Patients are described as salt wasting (SW), simple virilising (SV), or non-classical (NC). The CAH genotype is usually compound heterozygous.Aims: To characterise the cohort of CAH patients presenting to a regional centre 19942014, to quantify the allelic frequency of CYP21A2 mutations and to examine genotypephenotype associations.<...