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Congenital Adrenal Hyperplasia (Pediatric)

What is congenital adrenal hyperplasia (CAH)?

This disease is caused by a genetic mutation that affects adrenal function. The adrenal gland produces hormones that help our bodies respond to stress.

The classical form of CAH is usually diagnosed at birth or soon after.

A milder (nonclassical) form may be found in late childhood or early adulthood.

What are the symptoms of congenital adrenal hyperplasia ?

Infants with classical CAH may have life-threatening electrolyte abnormalities resulting in dehydration. In infants, signs of CAH may also include:

  • Ambiguous genitalia in girls
  • Enlarged penis in boys
  • Early genital hair
  • Poor weight gain
  • Weight loss
  • Vomiting
  • Lethargy

Nonclassical congenital adrenal hyperplasia may produce these symptoms in young girls:

  • Accelerated growth
  • Final height shorter than parents
  • Early puberty
  • Development of facial hair, excessive body hair and a deepening voice
  • Irregular or absence of periods

How is congenital adrenal hyperplasia diagnosed?

CAH may be diagnosed through blood testing for hormones and a genetic test. The New York State Screening Program checks for the presence of CAH in newborns by filter paper screening.

How is congenital adrenal hyperplasia treated?

Newborns must be treated immediately with glucocorticoid steroids, mineralocorticoid steroids and salt replacement.  Infants and children diagnosed with classical congenital adrenal hyperplasia need treatment and close monitoring throughout their lives.

Boys and girls with non-classical CAH may be treated with glucocorticoid steroids in order to mitigate its manifestations.