What are the signs and symptoms 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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Other findings

  • Patients with aldosterone deficiency of any etiology may present with dehydration, hyponatremia, and hyperkalemia, especially with the stress of illness

  • Males or females with 11-hydroxylase deficiency may present in the second or third week of life with a salt-losing crisis; later in life, these patients develop hypertension, hypokalemic alkalosis, or both

  • Infants with StAR deficiency (lipoid adrenal hyperplasia) usually have signs of adrenal insufficiency (eg, poor feeding, vomiting, dehydration, hypotension, hyponatremia, hyperkalemia)

  • Hyperpigmentation: Occurs in patients with deficiencies of enzyme activity involved in cortisol synthesis; may be subtle and is best observed in the genitalia and areolae

See Clinical Presentation for more detail.

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