Inherited, Non-CAH Primary Adrenal Insufficiency in Children: A Genetic and Clinical Profile from a Tertiary Care Centre

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Retrospective study identifies genetic mutations and clinical features of non-CAH PAI in children, highlighting the need for early diagnosis.

Children diagnosed with primary adrenal insufficiency commonly presented with symptoms like hyperpigmentation and growth delays.
Genetic analysis indicated seven distinct mutations associated with non-CAH primary adrenal insufficiency in twelve patients.
This retrospective review involved children under 18 diagnosed over an 8-year period at a tertiary care centre in South India.
The findings suggest a high prevalence of consanguinity, underscoring the importance of genetic testing in affected children.

Sheya et al. (2025) studied this question.

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Retrospective study identifies genetic mutations and clinical features of non-CAH PAI in children, highlighting the need for early diagnosis.