Congenital lipoid adrenal hyperplasia caused by a frame-shift mutation in the steroidogenic acute regulatory protein gene

Anastasios Papadimitriou, Ioanna Fountzoula, Georgia Tzortzatou, Himangshu S. Bose

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We present a female patient who, at the age of 35 days, presented with adrenal insufficiency with salt loss. Clinical and endocrinological investigation (low to normal levels of all adrenal steroids and raised ACTH) and imaging studies suggested congenital lipoid adrenal hyperplasia …