What is Congenital Adrenal Hyperplasia?

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  • Written By: Amy Hunter
  • Edited By: Andrew Jones
  • Last Modified Date: 03 July 2019
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Congenital adrenal hyperplasia is the term used for a group of related medical conditions that affect the adrenal glands. When affected, the adrenal glands have trouble manufacturing the proper amount of hormones. Most often, cortisol is affected by this condition, but mineralocorticoids, such as aldosterone, and androgens such as testosterone can also be affected.

To better understand congenital adrenal hyperplasia, it is helpful to understand exactly what the adrenal glands function is in the body. The adrenal glands are two small organs that are located above the kidneys. When functioning properly, they produce and regulate a variety of hormones. Congenital adrenal hyperplasia can be broken down into two different conditions.

Nonclassic congenital adrenal hyperplasia is a less severe form of the disease. It typically develops during the teenage years or early in adulthood. Symptoms in females include irregular menstruation, or an absence of menstruation, and masculine changes, including facial hair and deepening of the voice. Both males and females affected by the nonclassic form of this disease may experience early onset of puberty, a period of rapid growth with a shorter than expected adult height, severe acne, obesity, fatigue, low blood pressure, and low bone density.


In classic congenital adrenal hyperplasia, the outlook is more severe. It affects very young children and newborns. Girls who have this condition may be born with genitals that look more male than female. This is known as ambiguous external genitalia. This develops as a result of the female fetus being exposed to high levels of male sex hormones while in the womb. The child affected with this condition will often have trouble retaining birth weight, and suffer from dehydration and vomiting.

Congenital adrenal hyperplasia can, in some cases, be fatal. The patient suffering from this condition may go into a state called adrenal crisis. This occurs when the body fails to produce enough cortisol. When the body's levels of cortisol dip too low, the level of sodium in the blood drops. This triggers a variety of complications, including diarrhea, vomiting, low blood sugar, and even shock. Without treatment, the condition can be deadly.

Congenital adrenal hyperplasia is a genetic condition that is autosomal recessive. This means that both parents must have the condition, or be carriers of the genetic mutation. It is more common in certain ethnic groups, including Ashkenazi Jews, Eskimos, Yugoslavs, Hispanics and Italians. Treatment for this condition includes replacement hormones to bring the deficient hormones up to normal levels. For females with ambiguous genitalia, surgical correction can take place between the ages of two and six months.



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