ea0094p15 | Adrenal and Cardiovascular | SFEBES2023
Smith Chris
, Abdullah Mohamed
, Hassan Samar
, Fauzi Luqman
, Qamar Younus
, Hall Charlotte
, Maitra Saptarshi
, Maharaj Avinaash
, Marroquin Ramirez Lucia
, Read Jordan
, Chan Li
, Metherell Louise
, Musa Salwa
Primary adrenal insufficiency (PAI) in children is usually congenital with more than 25 causal genes with overlapping phenotypes. Genetic diagnosis helps to guide management and genetic counselling but can be challenging in resource limited settings. The most common genetic aetiologies for PAI in Sudan are congenital adrenal hyperplasia (CAH; mostly CYP21A2) and Triple A syndrome (AAAS). Here we investigate other genetic aetiologies of PAI in a cohort of 43 Sudanese families (...