Review Article

Pediatric Adrenal Insufficiency: Diagnosis, Management, and New Therapies

Table 1

Causes of adrenal insufficiency.

PRIMARY
 (i) Congenital adrenal hyperplasia
 (ii) Congenital adrenal hypoplasia due to gene mutations (e.g. DAX-1, SF1 mutations)
 (iii) Peroxisome defects (adrenoleukodystrophy [childhood or neonatal], Zellweger syndrome)
 (iv) Bilateral adrenal hemorrhage of the newborn
 (v) Adrenal hemorrhage of acute infection (Waterhouse-Friderichsen syndrome)
 (vi) Autoimmune adrenalitis (isolated or part of autoimmune polyglandular syndrome type 1 and 2)
 (vii) Infection (e.g. tuberculosis, fungal infection, human immunodeficiency virus, cytomegalovirus)
 (viii) Triple A syndrome or Allgrove syndrome (alacrimia, achalasia, adrenal insufficiency)
 (ix) Adrenal unresponsiveness to ACTH due to gene mutations
 (x) Familial glucocorticoid deficiency
 (xi) Drug effects (mitotane, ketoconazole, aminoglutethimide, metyrapone, megestrol, rifampin)
SECONDARY (CENTRAL)
 (i) Congenital
  (a) Septo-optic dysplasia
  (b) Pituitary aplasia/hypoplasia
  (c) Agenesis of corticotrophs
  (d) POMC
 (ii) Acquired
  (a) Trauma
  (b) Brain tumor (craniopharyngioma)
  (c) Lymphocytic hypophysitis
  (d) Surgery
  (e) Cranial irradiation
  (f) Infiltrative disease (hemochromatosis, sarcoidosis, Langerhans cell histiocytosis)
  (g) Steroid withdrawal after prolonged administration