Congenital Adrenal Hyperplasia (CAH)

What is a Congenital Adrenal Hyperplasia?

Congenital adrenal hyperplasia (CAH) alters the adrenal glands in their production of aldosterone and cortisol hormones. When a child is born with CAH the adrenal glands are unable to sufficiently generate these hormones. Some infants and children have a mild form of this disorder, while others have more serious symptoms.

There are two types of this disorder and classical CAH is normally diagnosed in babies and younger children. Adolescents and young adults acquire a different version of the disorder called nonclassical CAH. In order for a child to have either form of CAH, both parents must have the disorder or must be carriers of the mutated gene.

What are the Symptoms of Congenital Adrenal Hyperplasia?

Soon after birth, in about two or three weeks, infants who have severe congenital adrenal hyperplasia will begin to develop symptoms of this disorder.

Symptoms include

These symptoms include irregular heartbeat, atypical amounts of potassium and sodium in their blood, vomiting, inadequate eating and dehydration. Children who have mild CAH often do not develop any symptoms until they reach puberty. At this age, girls may have facial hair, an enlarged clitoris and menstrual cycles that are irregular or nonexistent. Pubescent boys will develop a deep voice, body hair growth at an earlier age and a larger-sized penis for their age group.

Congenital Adrenal Hyperplasia Causes

The causes of congenital adrenal hyperplasia, or CAH, are the disturbances of the three steroid hormones that are being produced and released by the adrenal glands to help the body functions: cortisol, aldosterone, and androgen. When there is not enough cortisol to be produced, it would be impossible for the body to regulate blood pressure and maintain blood sugar and energy levels. When there is too little aldosterone, both the sodium level and the blood pressure will be too low and the potassium level will be too high. And if the adrenal glands produce too much androgen, it can contribute to early puberty and the abnormal development of genitalia in females.

CAH is also caused by deficiencies in 21-hydroxylase and 11-hydroxylase which are needed by the adrenal glands to produce the right amount of the hormones. The deficiency in 21-hydroxylase occurs when the adrenal glands produce too little cortisol and aldosterone and too much androgen. It affects 95% of the CAH patients. The deficiency of 11-hydroxylase occurs when the glands produce too little cortisol and too much androgen; however, it does not result in the aldosterone deficiency. It affects only 5% of the CAH patients. As the result of these deficiencies, the body is unable to regulate certain functions which include metabolism, immune system, and the ability to fight stress. They can also cause problems with normal growth and development in children.

How is a Congenital Adrenal Hyperplasia Treated?

Replacement hormone drugs are most often prescribed to increase the hormone levels that a child with congenital adrenal hyperplasia is lacking. Usually, children are prescribed several different medications and they must be taken every day. Some medications, especially ones that are required in high doses, can cause side effects that impact a child’s bones and growth. For this reason, children must have periodic blood tests to regulate the medication. After reaching adulthood, some individuals who have nonclassical CAH can discontinue taking their hormone replacements.

Congenital Adrenal Hyperplasia Prevention

There is no known way to prevent this disease. The best thing people concerned can do is have their doctors diagnose and assess the risk of contracting the disease. Once a medical practitioner officially diagnoses their patient with CAH, providers issue appropriate treatments depending on the severity and the condition of the disease. While there is no cure, surgery and medications can help CAH patients manage the disease and lead normal lives.