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

Classic CAH

Symptoms of classic CAH due to 21-hydroxylase deficiency (the most common type of CAH) can be grouped into two types according to their severity: salt wasting and simple virilizing (also called non-salt wasting).¹

Symptoms of classic CAH due to 11-hydroxylase deficiency are similar to those of simple virilizing CAH.² About two-thirds of people with classic 11-hydroxylase deficiency also have high blood pressure (hypertension).^2,3

Salt-wasting CAH

Salt-wasting CAH is the severe form of classic 21-hydroxylase deficiency. In this type of CAH, the adrenal glands make too little aldosterone, causing the body to be unable to retain enough sodium (salt). Too much sodium is lost in urine (thus the name, "salt-wasting"). If undiagnosed, symptoms of classic salt-wasting CAH appear within days or weeks of birth and, in some cases, death occurs.

Symptoms may include:

• Dehydration
• Poor feeding
• Diarrhea
• Vomiting
• Heart rhythm problems (arrhythmias)
• Low blood pressure
• Very low blood sodium levels
• Low blood glucose
• Too much acid in the blood, called metabolic acidosis (pronounced met-uh-BOL-ik as-i-DOH-sis)
• Weight loss
• Shock, a condition where not enough blood gets to the brain and other organs. Shock in infants with salt-wasting is called adrenal crisis. Signs include confusion, irritability, rapid heart rate, and/or coma.

Even when carefully treated, children with salt-wasting CAH are still at risk for adrenal crises when they become ill or are under physical stress. The body needs more than the usual amount of adrenal hormones during illness, injury, or physical stress. This means a child with CAH must be given more medication during these times to prevent an adrenal crisis.

Salt-wasting CAH also involves symptoms caused by low cortisol and high androgens. These symptoms may include:

• In female newborns, external genitalia can be ambiguous, i.e., not typical female appearing , with normal internal reproductive organs (ovaries, uterus, and fallopian tubes)
• Enlarged genitalia in male newborns
• Development of certain qualities called virilization (pronounced vir-uhl-uh-ZEY-shuhn) in boys or girls before the normal age of puberty, sometimes as early as age 2 or 3. This is a condition characterized by:
  • Rapid growth
  • Appearance of pubic and armpit hair
  • Deep voice
  • Failure to menstruate, or abnormal or irregular menstrual periods (females)
  • Well-developed muscles
  • Enlarged penis (males)
  • Unusually tall height as children, but being shorter than normal as adults
  • Possible difficulties getting pregnant (females)
  • Excess facial hair (females)
  • Early beard (males)
  • Severe acne
  • Benign testicular tumors and infertility (males)

Simple virilizing (non-salt wasting) CAH

Simple virilizing CAH is the moderate form of classic 21-hydroxylase deficiency. This type of CAH involves less severe aldosterone deficiency. Therefore, there are no severe or life-threatening sodium-deficiency symptoms in newborns. Like salt-wasting CAH, simple virilizing CAH involves too little cortisol and too much androgen. Female newborns typically have ambiguous genitalia, and young children typically display virilization.

Nonclassic CAH

Almost all cases of nonclassic CAH are caused by a mild 21-hydroxylase deficiency. Most symptoms of nonclassic CAH are related to increased androgens. Symptoms can show up in childhood, adolescence, or early adulthood.²

Symptoms of nonclassic CAH can include:

• Rapid growth in childhood and early teens but shorter height than both parents
• Early signs of puberty
• Acne
• Irregular menstrual periods (females)
• Fertility problems (in about 10% to 15% of women)
• Excess facial or body hair in women
• Male-pattern baldness (hair loss near the temples)
• Enlarged penis (males)
• Small testicles (males)

Some people have nonclassic CAH and never know it because the symptoms are so mild.^1,2,3,4,5,6