What're the treatments for congenital adrenal hyperplasia?
The goal of treatment for congenital adrenal hyperplasia is to return the androgen levels to normal. This is usually
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accomplished through drug therapy, although surgery is an alternative. Lifelong treatment is required.
Drug therapy consists of a cortisol-like steroid medication called a glucocorticoid. Oral hydrocortisone is prescribed for children, and prednisone or dexamethasone is prescribed for older patients. For patients with salt-wasting CAH, fludrocortisone, which acts like aldosterone (the missing hormone), is also prescribed. Infants and small children may also receive salt tablets, while older patients are told to eat salty foods. Medical therapy achieves hormonal balance most of the time, but CAH patients can have periods of fluctuating hormonal control that lead to increases in the dose of steroids prescribed. Side effects of steroids include stunted growth. Steroid therapy should not be suddenly stopped, since adrenal insufficiency results.
Patients with CAH should see a pediatric endocrinologist frequently. The endocrinologist will assess height, weight, and blood pressure, and order an annual x ray of the wrist (to assess bone age), as well as assess blood hormone levels. CAH patients with the milder form of the disorder are usually effectively treated with hydrocortisone or prednisone, if they need medical treatment at all.
Females with CAH who have masculine external genitalia require surgery to reconstruct the clitoris and/or vagina. This is usually performed between the ages of one and three. An experimental type of drug therapy-a three-drug combination, with an androgen blocking agent (flutamide), an aromatase inhibitor (testolactone), and low dose hydrocortisone-is currently being studied by physicians at the National Institutes of Health. Preliminary results are encouraging, but it will be many years before the safety and effectiveness of this therapy is fully known.
Adrenalectomy, a surgical procedure to remove the adrenal glands, is a more radical treatment for CAH. It was widely used before the advent of steroids. Today, it is recommended for CAH patients with little or no enzyme activity and can be accomplished by laparoscopy. This is a minimally invasive type of surgery done through one or more small 1 in (2.5 cm) incisions and a laparoscope, an instrument with a fiber-optic light containing a tube with openings for surgical instruments. Adrenalectomy is followed by hormone therapy, but in lower doses than CAH patients not treated surgically receive.
Children with CAH should be examined regularly by a pediatric endocrinologist. CAH is treated by hormone replacement. Two types of hormone replacement medications are given to correct the abnormal hormone levels in CAH. Both boys and girls with CAH need to take a cortisol-like medication to control the excessive male-like hormone production. These hormones are given two or three times each day by mouth as a pill. Children with salt-wasting CAH may in addition receive a salt-retaining hormone pill once or twice daily with or without salt tablets or salt added to the baby formula to prevent severe dehydration. Girls born with CAH who have masculine external genitals will need surgery to reconstruct the clitoris and/or labia. This is usually performed between the ages of one and three.
CAH is treated with glucocorticoids, which replace adrenal cortisol, suppress excess ACTH secretion by the pituitary gland, and stop the production of excess androgens. Those patients with aldosterone deficiency, require treatment with the salt-retaining steroid, fludrocortisone as well. The amount of steroid medication given should be no more than that usually made by the body itself. The adverse symptoms associated with steroid medications are seen with doses that are therapeutic, not replacement. Some adult women may also require treatment with anti-androgen medications and /or an oral contraceptive. Clinical trials are currently investigating new treatment options and gene therapy for this population. |
