Endocrine Abstracts

Primary adrenal insufficiency (PAI) in children is usually congenital with more than 25 causal genes leading to overlapping phenotypes. A genetic diagnosis is helpful to guide management and genetic counselling but can be challenging in resource limited settings where facilities for antibodies and genetic testing may be unavailable. Studies from Africa are rare but, in Sudan, the most common genetic aetiologies for PAI are congenital adrenal hyperplasia (CAH; mostly CYP21A...

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 (...