hrp0095p1-6 | Adrenals and HPA Axis | ESPE2022

Clinical and Genetic characterization of primary adrenal insufficiency in Sudanese children

A. Musa Salwa , A. Abdullah Mohamed , S. Hassan Samar , Qamar Younus , Hall Charlotte , Maitra Saptarshi , V Maharaj Avinaash , Mariela Marroquin Ramirez Lucia , Read Jordan , Smith Christopher , F Chan Li , A Metherell Louise

Background: Primary adrenal insufficiency (PAI) in children is an uncommon condition. Diagnosis is usually challenging especially in resource limited settings where facilities for antibodies and genetic testing are constrained. Many genetic etiologies have been reported in children with PAI due to congenital adrenal hyperplasia (CAH) and Allgrove syndrome are the commonest identified genetic causes to date in Sudan. Studies from Africa are rare and here we des...

hrp0098rfc8.4 | Adrenals and HPA Axis 2 | ESPE2024

Rare Genetic Etiology of Primary Adrenal Insufficiency in Children; Clinical and Genetic Characterization of a Large Sudanese Cohort

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

Background: Studies of Primary Adrenal Insufficiency (PAI) from Africa are scanty while in Sudan, congenital adrenal hyperplasia (CAH) followed by Triple A syndrome are the commonest reported genetic etiologies in children. Diagnosis is challenging, especially in resource limited settings where presentation can mimic common childhood diseases and facilities for biochemical and genetic testing are restricted.Patients & Methods...