Introduction: Primary adrenal insufficiency (PAI) in children is rare and lifethreatening, with nonspecific clinical presentations that often delay diagnosis.Non-congenital adrenal hyperplasia (non-CAH) etiologies are less frequent and include autoimmune and monogenic disorders.Objective: Review pediatric non-CAH PAI cases over a 20-year period in a tertiary care hospital.Methods: Retrospective analysis of children diagnosed with non-CAH PAI between January 2004 and December 2024.Data were collected from medical records and analyzed descriptively.Results: Six patients were identified (5 males, 1 female; median age 10.9 years).Etiologies included autoimmune adrenalitis (n=3), Triple A (Allgrove) syndrome (n=2), and X-linked adrenoleukodystrophy (ALD, n=1).Clinical presentation was variable: hyperpigmentation (83%), vomiting (83%), fatigue (33%), seizures (33%); two patients required ICU (Intensive Care Unit) admission.Biochemical findings included hyponatremia in 57% and hyperkalemia in 29%; all patients presented markedly elevated ACTH and low cortisol.All received hydrocortisone; five also required fludrocortisone.Genetic confirmation was achieved in ALD and one Triple A patient.Four patients (67%) had neurodevelopmental comorbidities.Discussion: Non-CAH PAI in childhood often presents with nonspecific symptoms, while classic features such as hyperpigmentation may be absent.Autoimmune adrenalitis was the most common etiology, whereas genetic disorders, namely ALD and Triple A syndrome, accounted for a substantial proportion of cases.Laboratory hallmarks include hyponatremia, elevated ACTH, and low cortisol.Clinical and biochemical findings, together with molecular analysis, allow precise etiologic diagnosis, guiding prognosis, treatment optimization, and family screening.Clinicians should maintain a high index of suspicion to prevent adrenal crisis.
Neto et al. (Fri,) studied this question.