What is Congenital Adrenal Hyperplasia (CAH)?

Congenital adrenal hyperplasia (CAH) are inherited genetic disorders that can affect both of your adrenal glands. Your adrenal glands are two grape-sized organs that are placed on top each of your kidneys. Adrenal glands produces hormones that is responsible to for regulating your metabolism, immune system, your blood pressure & including your essential body functions.

There are four adrenal cortex hormones produced by the adrenal glands:

Cortisol a glucocorticoid. It is the hormone that regulates blood pressure levels, helps the body cope with illness and injury, maintain blood sugar and energy levels and protects your body against stress.

Androgens male sex hormones that control puberty, growth and male sexual characteristics.

Aldosterone a mineralocorticoid regulates the blood volume and blood pressure and helps keep the proper balance of salt (sodium) and water in the body

Estrogens female sex hormones that control puberty, growth and female sexual characteristics.

Congenital adrenal hyperplasia is caused by the lack of proteins that cause chemical changes in the body which affects production of the adrenal hormones that regulate essential body functions.  There are two types of CAH. The Classic CAH which is a more severe form of the disease and which can be detected in newborn screening programs  and the Nonclassic CAH which is milder and more common form of diseases that is not evident until childhood or early adulthood.

Classic CAH

Classic CAH is the more severe type of CAH that is first detected in infancy or early childhood.  In the “salt-wasting” or “salt-losing” form of CAH, there is not enough cortisol and aldosterone making it difficult for the body to keep the right amount of salt in the blood and if not treated can cause shock, coma and death.

Excess production of the male sex hormone testosterone in classic CAH results to ambiguous genitalia in female infants wherein their external sex organs resemble that of male sex organs. Male infants is classic CAH may have enlarged penis or even normal ones but will experience rapid growth during childhood but will have shorter than the average height and the appearance of early signs of puberty like pubic hair. In both cases, the infant, or child not diagnosed and appropriately treated at birth may experience vomiting, weight loss, dehydration, shock  and even death.

Nonclassic CAH

This form of CAH is milder and no detection of symptoms at birth but only until childhood or adulthood. The hormone deficient in this condition is the cortisol levels and it is not life threatening.

Teenage and adult females with nonclassic CAH will experience irregular or absent menstrual periods and will have masculine characteristics such as facial hair, acne and deepening of their voice. Both male and females with experience rapid growth but shorter than average height, early or severe acne, early development of public and armpit hair and infertility or decreased fertility.

Treatment

Glucocorticoids is the medicine needed by people with Classic CAH to replace the cortisol that their bodies cannot produce. And those with the “salt-losing” form would need mineralocorticoids.  Sodium chloride or salt supplements are usually given for infants. Nonclassic CAH is not detected at birth and does not result to genital abnormalities. Some may have no symptoms and does not require treatment. Though other may need a low dose of glucocorticoids, this treatment is not lifelong.

There may be no known preventive measures for CAH but with proper care, proper natural supplements, people with this condition may live long and healthy lives.