ea0028p306 | Steroids | SFEBES2012
Krone Nils
, Rose Ian
, Willis Debbie
, Wild Sarah
, Hodson James
, Doherty Emma
, Hahner Stefanie
, Parajes Silvia
, Stimson Roland
, Han Thang
, Carroll Paul
, Conway Gerard
, Walker Brian
, Macdonald Fiona
, Ross Richard
, Arlt Wiebke
, CaHASE The UK CAH Adult Study Executive
In congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency a genotype-phenotype correlation exists for paediatric cohorts, helping to predict the severity of disease expression. Data on the correlation in adults is lacking. Here we report the genetic analysis of the UK CaHASE cohort, comprising CAH adults seen at 17 endocrine tertiary care centres. CYP21A2 mutation analysis was performed in 153 patients (median age 35 (range 1869) yrs; 103 f, 50 m) by multi...