How is the 17-hydroxylase deficiency form of congenital adrenal hyperplasia (CAH) characterized?

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

Other forms of adrenal hyperplasia are characterized by disordered genital development in utero, lack of secondary sexual characteristics development, or hypertension. For example, 17-hydroxylase deficiency in females is rarely identified at birth, but these females seek medical attention later in life because of hypertension or failure to develop secondary sexual characteristics at puberty due to an inability to synthesize estrogens. Male patients with this disorder have ambiguous or female genitalia and may be raised as girls and seek medical attention later in life because of hypertension or a lack of breast development.


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