Distinguishing clinical features of paediatric autoimmune Addison's disease and polyendocrine syndromes: a 15-year...

Autoimmune Addison's disease (AAD) is a rare endocrine disorder characterised by immune-mediated destruction of the adrenal cortex. AAD may occur in isolation or as part of a broader autoimmune polyendocrine syndrome (APS). Distinguishing the two is essential owing to implications for patient screening and prognosis. Earlier identification of APS patients is crucial for preserving residual adrenal function and developing future targeted therapies. This study aimed to define clinical and laboratory features of paediatric isolated AAD and APS.

This retrospective cohort study recruited 55 paediatric patients; 27/55 had isolated AAD and 28/55 had APS. They were followed at the Children's Welfare Teaching Hospital, Baghdad, Iraq, between 2009 and 2024. Data collected and compared included: demographic variables (age, gender, family history, duration of symptoms), presenting clinical features and adrenal crisis, and laboratory parameters.

Male predominance was observed in both groups, although the difference was not significant. Positive family history was more frequent in APS (p = 0.03). Clinically, hyperpigmentation, weight loss, poor appetite, and hypoglycaemia-induced seizures were significantly higher in isolated AAD (p = 0.0001, 0.0002, 0.042, 0.041). Adrenal crises were more frequent in APS cases (p = 0.18). Major risk factors for adrenal crisis included poor treatment compliance and infections. Laboratory parameters showed that hyperkalaemia and hypoglycaemia were significantly more pronounced in AAD (0.0079 and 0.00002).

Distinguishing isolated AAD from APS may be clinically useful. Differences were observed in metabolic severity, family history, weight loss, hyperpigmentation, and risk of adrenal crisis. These findings suggest that management of both conditions may benefit from a tailored approach, emphasizing treatment adherence and infection prevention in both groups.