Article
Primary Adrenocortical Insufficiency Case Series: Genetic Etiologies More Common than Expected.
Hormone research in paediatrics - 1 Jan 2016
Tsai Sarah L, Green Jane, Metherell Lou A, Curtis Fiona, Fernandez Bridget, Healey Ara, Curtis Joseph
Abstract excerpt
BACKGROUND/AIMS: Primary adrenal insufficiency (AI) is an important cause of morbidity in children. Our objectives were: (1) to describe the clinical presentation of children with new-onset primary AI, and (2) to identify monogenic causes of primary AI in children. METHODS: Chart review and mutation detection in candidate genes were conducted for 11 patients with primary AI. RESULTS: The likely cause of AI was...
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