What are the symptoms of CYP17A1 defects in congenital adrenal hyperplasia (CAH)?

Updated: Oct 06, 2020
  • Author: Thomas A Wilson, MD; Chief Editor: Sasigarn A Bowden, MD  more...
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Two forms of adrenal hyperplasia (ie, 11-hydroxylase [CYP11B1] and 17-hydroxylase [CYP17] deficiency) result in hypertension due to the accumulation of supraphysiologic concentrations of deoxycorticosterone. [12] This weak mineralocorticoid has little consequence at physiologic concentrations but causes sodium retention and hypertension at the supraphysiologic concentrations that occur in these conditions. One form of adrenal hyperplasia results in isolated aldosterone deficiency without affecting the synthesis of cortisol or sex steroids. This form is due to a defect in enzymatic activities that have variously been termed CMO I, CMO II, 18-hydroxylase, or 18-hydroxycorticosterone dehydrogenase; however, it is currently thought to represent one protein called aldosterone synthetase (CYP11B2).

A study by Carvalho determined that in 46,XX patients with CAH resulting from CYP17A1 defects, diagnostic factors include amenorrhea, absence/sparseness of pubic hair, and ovarian macrocysts (risk factors for ovarian torsion), along with the aforementioned hypertension. CYP17A1 defects are also indicated by high basal progesterone levels in patients with hypergonadotropic hypogonadism. [13]

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