Autoimmune Primary Adrenal Insufficiency in Children

Area of Science:

• Pediatric Endocrinology
• Autoimmune Diseases
• Adrenal Gland Disorders

Background:

• Primary adrenal insufficiency (PAI) is a rare and potentially life-threatening condition in children.
• Congenital adrenal hyperplasia is the most common cause, while autoimmune etiology is the most frequent acquired cause in this age group.
• Symptoms are often non-specific, necessitating a high index of suspicion for timely diagnosis.

Purpose of the Study:

• To retrospectively analyze clinical and laboratory data of pediatric patients diagnosed with primary adrenal insufficiency due to autoimmune adrenalitis.
• To highlight the diagnostic challenges and treatment outcomes in this rare pediatric condition.

Main Methods:

• Retrospective collection of clinical and laboratory data from pediatric patients with autoimmune adrenalitis between 2015 and 2020.
• Diagnosis confirmed by serum cortisol, plasma adrenocorticotropin hormone (ACTH) levels, and presence of anti-adrenal antibodies.
• Evaluation of presenting symptoms, diagnostic duration, and treatment regimens.

Main Results:

• Eight patients (seven males, one female) aged 14-17 years were identified with autoimmune adrenalitis.
• Presenting symptoms ranged from chronic fatigue and weight loss to severe neurological manifestations like altered mental status and seizures.
• Hyponatremia was the most common laboratory abnormality at diagnosis; all patients received hydrocortisone and fludrocortisone.
• One patient had co-existing type 2 autoimmune polyglandular syndrome.

Conclusions:

• PAI is a rare pediatric condition requiring high clinical suspicion due to non-specific symptoms.
• Prompt diagnosis and initiation of appropriate treatment (hydrocortisone, fludrocortisone) are essential for preventing adverse outcomes.
• Post-diagnosis follow-up should include screening for other autoimmune conditions.