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Congenital adrenal hyperplasia

Congenital adrenal hyperplasia (kun-JEN-ih-tul uh-DREE-nul hi-pur-PLAY-zhuh) is a collection of genetic conditions that limit your adrenal glands' ability to make certain vital hormones. In most cases of congenital adrenal hyperplasia, the adrenal glands don’t produce enough cortisol. The production of two other kinds of hormones also may be affected, including mineralocorticoids (for example, aldosterone) and androgens (for example, testosterone).

Congenital adrenal hyperplasia can cause problems with normal growth and development in children — including normal development of the genitals. It affects both males and females.

Although congenital adrenal hyperplasia can be life-threatening, most people with it can lead normal lives with proper treatment.


Symptoms Causes Risk factors Complications Prevention

There are two major types of congenital adrenal hyperplasia:

  • Classic congenital adrenal hyperplasia. This more severe form of the disease is usually detected in infancy or early childhood.
  • Nonclassic congenital adrenal hyperplasia. This milder form usually becomes evident in late childhood or early adulthood.

Classic congenital adrenal hyperplasia

The most obvious sign of classic congenital adrenal hyperplasia in girls is often abnormal-appearing genitals that look more male than female, which may include an enlarged clitoris — a condition called ambiguous external genitalia. Other signs and symptoms in girls also reflect exposure to higher levels of male sex hormones (androgens) while in the womb.

The condition is not typically as easily seen in baby boys, although some affected male infants have an enlarged penis.

Signs and symptoms of classic congenital adrenal hyperplasia in infants include:

  • Ambiguous genitalia in girls
  • Enlarged penis in boys
  • Poor weight gain
  • Weight loss
  • Dehydration
  • Vomiting

Signs and symptoms of classic congenital adrenal hyperplasia in children and adults include:

  • Very early puberty
  • Rapid growth during childhood, but shorter than average final height
  • Irregular menstrual cycles in women
  • Infertility in women and men

Nonclassic congenital adrenal hyperplasia

This form of congenital adrenal hyperplasia is milder and usually becomes evident in late childhood or early adulthood.

Signs and symptoms are typically most apparent in adolescent girls and women and often include:

  • Irregular or absent menstrual periods
  • Masculine characteristics such as facial hair, excessive body hair and a deepening voice
  • Infertility

In both females and males, signs and symptoms of nonclassic congenital adrenal hyperplasia also may include:

  • Early puberty
  • Rapid growth during childhood, but shorter than average final height
  • Severe acne
  • Low bone density
  • Obesity

When to see a doctor

Contact your child's pediatrician if your child has signs and symptoms that seem to suggest congenital adrenal hyperplasia. Also, if you're pregnant and may be in a high-risk group for congenital adrenal hyperplasia because of your own medical history or your ethnicity, ask your doctor about genetic counseling. Your doctor can also discuss with you possible treatment of your fetus before birth (prenatal treatment).


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