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Congenital Adrenal Hyperplasia

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Signs and Symptoms

Symptoms associated with congenital adrenal hyperplasia (CAH) depend upon the type of enzyme deficiency and the amounts of cortisol, aldosterone, and androgens that are produced. Symptoms may vary over time and can worsen with illness and stress.

Those associated with the form of classic 21-hydroxylase deficiency CAH that causes excess loss of fluids and salt ("salt-wasting") can lead to a life-threatening adrenal crisis.

Salt-wasting CAH signs and symptoms may include:

  • Abnormal heart rhythm, rapid heart rate
  • Confusion
  • Dehydration
  • High potassium (hyperkalemia)
  • Irritability
  • Low blood glucose (hypoglycemia)
  • Low blood pressure
  • Low sodium (hyponatremia)
  • Vomiting

Females with classic 21-hydroxylase deficiency may have external sex organs that are not clearly male or female (ambiguous external genitalia) but normal reproductive organs (uterus, fallopian tubes, and ovaries).

Signs and symptoms associated with excess male hormones (androgens) in both males and females in childhood and early adolescence may include:

  • Accelerated skeletal growth (tall during childhood but short as adults)
  • Acne
  • Deep voice
  • Enlarged penis (males)
  • Enlargement of clitoris (females)
  • Excess hair on face and body (hirsutism) in females
  • Infertility or decreased fertility
  • Irregular menstruation (females)
  • Excess muscle growth
  • Early development of pubic and armpit hair

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