What is the role of congenital adrenal hyperplasia (CAH) in the development of hirsutism?

Updated: May 01, 2020
  • Author: George T Griffing, MD; Chief Editor: Michel E Rivlin, MD  more...
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Answer

CAH is actually a family of defects in 1 of 5 enzymes that are responsible for the biosynthesis of cortisol. The resulting cortisol deficiency heightens the secretion of ACTH and thereby leads to adrenal cell proliferation. However, only 3 of these defects can produce hirsutism—21-hydroxylase (most frequent), 3β-hydroxysteroid dehydrogenase (less frequent), and 11-β-hydroxylase deficiency (least frequent).

If CAH is considered, an ACTH-stimulation test is indicated, which is a search for exaggerated quantities of the precursors of cortisol. The stimulation test is required because baseline elevation of these steroids may be in the reference range.

Hyperandrogenism in CAH can cause infertility, but dexamethasone therapy in this setting may induce ovulation. Two important reasons for the diagnosis of CAH are that specific therapy is available and genetic counseling may be necessary. Women with both CAH (21-hydroxylase deficiency) and Cushing syndrome. Have been described with particularly severe hirsutism.


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