Two siblings with non-classic P450scc deficiency resulted from a novel mutation in CYP11A1 gene misdiagnosed as familial glucocorticoid deficiency.

Abstract excerpt

P450scc deficiency due to CYP11A1 gene mutations is a rare cause of primary adrenal insufficiency (PAI) in children. We reported two young siblings with PAI presented with hyperpigmentation. They were referred to our clinic with a diagnosis of familial glucocorticoid deficiency (FGD), another rare cause of PAI. However, further hormonal evaluation revealed increased plasma renin activity, which was not congruent...

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