ea0033oc1.7 | Oral Communications 1 | BSPED2013
Prasad Rathi
, Chan Li
, Hughes Claire
, Kaski Juan
, Kowalczyk Julia
, Savage Martin
, Peters Catherine
, Nathwani Nisha
, Clark Adrian
, Storr Helen
, Metherell Louise
Background: Novel pathogenic mechanisms involving replicative and oxidative stress have recently been described in familial glucocorticoid deficiency (FGD); including mutations in NNT. NNT supplies high concentrations of NADPH needed by the glutathione and thioredoxin anti-oxidant systems to detoxify mitochondrial H2O2.Six patients, from a consanguineous Kashmiri family, were diagnosed with glucocorticoid deficiency between...