Background: Adrenal insufficiency (AI) is a rare condition affecting children, potentially life-threatening. Autoimmune adrenalitis accounts for 15% of all cases of primary adrenal insufficiency in pediatric age. Most symptoms are usually unspecific, making the diagnosis quite challenging.
Objective: The aim of the study was to describe clinical presentation, biochemical abnormalities, treatment and the clinical course of patients with autoimmune AI.
Methods: We retrospectively collected clinical and laboratory data from AI due to autoimmune adrenalitis patients, observed from 2015 to 2020 in a pediatric endocrinology department of a tertiary care hospital.
Results: Eight patients were identified, 7 males and 1 female. The age at diagnosis ranged from 14 to 17 years old. The most frequent symptoms at presentation were anorexia (n=5), weight loss (n=5), chronic fatigue (n=5), vomiting (n=4) and hyperpigmentation (n=3). Less frequent symptoms included seizures and altered mental status in context of severe hyponatremia. The symptoms initiated in average 4,4 months prior to the diagnosis. The diagnosis was established by serum cortisol and plasmatic ACTH measurement. These results were unequivocal and no confirmation test was needed in any case. The autoimmune etiology was confirmed in all patients by measuring anti-adrenal antibodies. The most common laboratorial abnormality was hyponatremia (n=7), followed by hyperkaliemia (n=5) and metabolic acidosis (n=3). All patients were medicated with hydrocortisone and fludrocortisone. During the follow-up, one patient presented Graves disease configuring a type 2 autoimmune polyglandular syndrome.
Conclusions: Primary AI is a rare condition in pediatric age. Due to unspecific symptoms, a high suspicion index is crucial to establish the diagnosis. Once autoimmune etiology is confirmed, it is important to initiate the appropriate treatment and search for signs and symptoms of other autoimmune diseases during follow-up.