Congenital Adrenal Hyperplasia

(CAH)

Definition

Congenital adrenal hyperplasia (CAH) is a group of genetic conditions. These conditions affect the adrenal glands. These glands control how the body grows and develops. There are many types of CAH.

Causes

CAH is a genetic disorder. It is passed from the parents to the child.The symptoms of CAH are caused by problems in the adrenal glands. In CAH, the glands may have trouble making one or both of the following hormones:
  • Cortisol—helps the body respond to stress and infections
  • Aldosterone—helps the body maintain normal levels of sodium and potassium
The adrenal gland will work harder to try to produce more of the missing hormones. This can lead to an overproduction of another hormone called androgen. This hormone is present in boys and girls, but is responsible for the development of male features. Other adrenal hormones may affect how the body handles salt and water.
Adrenal Glands
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Risk Factors

A family history of CAH will increase your child's chance of having the condition. People can carry the gene for CAH and not have the disorder. In this case, both parents must have the CAH gene for the child to have a 25% chance of getting CAH.

Symptoms

Symptoms can vary with the different types of CAH and the gender of the child. General symptoms include:
  • Altered or unexpected features in newborn girls such as:
    • Unusual appearance of genitalia
    • Parts of the external genitalia may resemble a penis
  • Early signs of puberty in boys as young as 2-3 years old such as:
    • Becoming very muscular
    • Experiencing penis growth
    • Developing pubic hair
    • Having a deepening voice
  • Excessive facial and/or body hair
  • Fast growth compared to peers of the same age—most children will stop growing sooner than their peers and are often relatively short as adults
  • Difficulty fighting respiratory infections and illnesses
  • Dehydration
  • Loss of appetite
  • Weight loss
  • Severe acne
  • Weakness
  • Fatigue
  • Fever
  • Nausea and vomiting
  • Abdominal pain
  • Diarrhea
  • Bluish skin color
  • Confusion

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