Searchable abstracts of presentations at key conferences in endocrinology

ea0081rc2.1 | Rapid Communications 2: Adrenal and Cardiovascular Endocrinology 1 | ECE2022

A rapid genetic diagnosis for >80% individuals with non-CAH Primary Adrenal Insufficiency is achievable by candidate gene sequencing combined with WES

Smith Chris , Read Jordan , Hall Charlotte , Maharaj Avinaash , Marroquin Ramirez Lucia , Qamar Younus , Hughes Claire , Clark Adrian , Prasad Rathi , Chan Li , Musa Salwa , Metherell Louise

Primary adrenal insufficiency in children can be due to mutations in >20 genes, most commonly CYP21A2, giving rise to 21-hydroxylase deficiency. Phenotypically these disorders overlap and present with conditions ranging from isolated (or familial) glucocorticoid deficiency (FGD) to syndromic disorders involving multiple tissues. Distinguishing between them can be problematic, especially where biochemical testing is not possible or not undertaken. Over the last 30 ...

ea0090p560 | Adrenal and Cardiovascular Endocrinology | ECE2023

Genetic Aetiology of Primary Adrenal Insufficiency in Sudan

Smith Chris , Abdullah Mohamed , Hassan Samar , Qamar Younus , Hall Charlotte , Maitra Saptarshi , Maharaj Avinaash , Mariela 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 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...

ea0094p15 | Adrenal and Cardiovascular | SFEBES2023

Genetic aetiology of primary adrenal insufficiency in Sudan

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 (...

ea0104p17 | Adrenal & Cardiovascular | SFEIES24

WES as a tool for differential diagnosis of adrenal insufficiency in sudanese children

Smith Chris , Abdullah Mohamed , Hassan Samar , Fauzi Luqman , Qamar Younus , Hall Charlotte , Maitra Saptarshi , Maharaj Avinaash , Marroquin Ramirez Lucia , Read Jordan , Chan Li , Musa Salwa , Metherell Louise

Studies of adrenal insufficiency (AI) in African children are rare and diagnosis is challenging, especially in resource limited settings where biochemical and genetic testing are restricted. We describe the genetic characterisation of a cohort of Sudanese children, identifying founder effects and commonly mutated genes that will improve their treatment, expand our knowledge of AI, and expedite diagnosis of future patients. 48 patients from 43 families (31M:17F) with presentati...