How does congenital adrenal hyperplasia cause chronic Addison disease?

Updated: Mar 11, 2020
  • Author: George T Griffing, MD; Chief Editor: Romesh Khardori, MD, PhD, FACP  more...
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Answer

Congenital adrenal hyperplasia

  • Primary adrenocortical insufficiency may occur in patients with the StAR [35] or 20,22-desmolase enzyme deficiency, 3-beta hydroxysteroid dehydrogenase enzyme deficiency, and the severe form of the 21-hydroxylase enzyme deficiency (virilizing and salt wasting).

  • Infants usually present in shock, with hypoglycemia and adrenal insufficiency.

  • In 3-beta hydroxysteroid dehydrogenase enzyme deficiency, female infants appear virilized, whereas male infants may have pseudohermaphroditism from insufficient androgen activity.

  • Lipoid congenital adrenal hyperplasia is a severe disorder of adrenal and gonadal steroidogenesis caused by mutations in the steroidogenic acute regulatory protein (StAR). Affected children typically present with life-threatening adrenal insufficiency in early infancy due to a failure of glucocorticoid (cortisol) and mineralocorticoid (aldosterone) biosynthesis. Male infants usually have features of pseudohermaphroditism due to an associated deficiency of gonadal steroids. [35, 36]

  • The rapid ACTH test usually helps to establish the diagnosis. Patients with CAH respond with a marked increase in 17-OH progesterone levels, an increase in other precursors preceding the enzyme block, and a subnormal cortisol response.


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