What is the role of congenital adrenal hyperplasia in the etiology of androgen excess?

Updated: Mar 14, 2018
  • Author: Mohamed Yahya Abdel-Rahman, MD, MSc; Chief Editor: Richard Scott Lucidi, MD, FACOG  more...
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Approximately 2% of women with androgen excess are found to have late-onset, nonclassical, congenital adrenal hyperplasia. [39] Congenital adrenal hyperplasia is a group of autosomal recessive disorders resulting from mutations in the genes coding for steroidogenic enzymes. In these disorders, a block in cortisol biosynthesis leads to loss of negative feedback inhibition, increased ACTH secretion, and subsequent excessive adrenal androgen production. [51]

The most common cause of congenital adrenal hyperplasia is 21-hydroxylase deficiency, which accounts for 90-95% of patients with this condition. [51] The remaining patients with congenital adrenal hyperplasia have either 11 β-hydroxylase deficiency or 3 β-hydroxysteroid deficiency. [52, 53]

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