What is the presentation of the 11-hydroxylase deficiency form of congenital adrenal hyperplasia (CAH)?

Updated: Oct 06, 2020
  • Author: Thomas A Wilson, MD; Chief Editor: Sasigarn A Bowden, MD  more...
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Answer

Male or female patients with 11-hydroxylase deficiency may present in the second or third week of life with a salt-losing crisis. However, these patients develop hypertension, hypokalemic alkalosis, or both later in life. This paradox is explained by resistance to mineralocorticoids in infancy and the inability of the elevated deoxycorticosterone levels to replace the deficient serum concentrations of aldosterone in infancy. Upon maturation, mineralocorticoid responsiveness increases, and the elevated concentrations of deoxycorticosterone are sufficient to cause sodium retention, potassium excretion, and hypertension.


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