Adrenal gland and paraganglia
Congenital anomalies
Adrenal hypoplasia

Author: Nat Pernick, M.D. (see Authors page)

Revised: 14 January 2016, last major update February 2005

Copyright: (c) 2002-2016, PathologyOutlines.com, Inc.

General
  • Congenital aplasia is very rare; found in 10% with unilateral renal agenesis
  • Bilateral hypoplasia is associated with anencephaly due to lack of ACTH cells; causes adrenal insufficiency
  • Unilateral absence occurs in 1 per 10,000 live births
  • May be associated with sudden infant death syndrome (Arch Pathol Lab Med 1977;101:168)
  • Infant symptoms: weight loss, vomiting, dehydration and severe electrolyte disturbances - due to adrenal insufficiency
  • Primary hypoplasia: X linked, associated with mutations or deletions of DAX-1 gene at Xp21; cortex is hypoplastic, but fetal zone is intact and often has cytomegalic features; associated with hypogonadotrophic hypogonadism in young men
  • Miniature adult type of hypoplasia: sporadic or autosomal recessive; small glands but normal architecture
Gross Description
  • Small for age adrenal glands, decreased fetal zone in newborns, scattered cytomegalic cells, cells have decreased lipid
Differential Diagnosis
  • Chronic exogenous glucocorticoids: cause acquired hypoplasia