Congenital adrenal hyperplasia, or CAH, is a genetic condition that affects the adrenal glands in newborns. Specifically, the adrenal glands do not produce enough cortisol or aldosterone, which are hormones necessary for stress response and blood pressure maintenance. In addition, the adrenal glands produce abnormal amounts of androgens, or sex hormones, which can cause female infants to have ambiguous external genitals but normal female ovaries and uterus. Furthermore, infants can have problems with blood pressure and weight, states MayoClinic.com. Treated early, infants with CAH can lead normal lives.
Dexamethasone or Hydrocortisone
The adrenal glands do not produce cortisol in CAH because an enzyme, 21-hydroxylase, that produces cortisol is not produced in the adrenal glands. Thus, cortisol must be replaced to treat CAH. MedlinePlus, of the National Institutes of Health, states that corticosteroids are prescribed to replace cortisol that the adrenal glands are not producing. Physicians will typically prescribe dexamethasone or hydrocortisone to replace cortisol. A patient with CAH will have to take a corticosteroid daily to maintain cortisol levels. Furthermore, patients may need to take additional doses of corticosteroids during times of stress, severe illness or surgery. According to MayoClinic.com, side effects include loss of bone mass and impaired growth.
Fludrocortisone
The adrenal glands fail to produce aldosterone, which is the hormone that controls blood pressure. A lack of aldosterone may cause vomiting, dehydration, low blood pressure and shock in a patient with CAH. MayoClinic.com states that fludrocortisone is prescribed to replace aldosterone, which is the hormone that controls blood pressure. Side effects of fludrocortisones include vision problems, swelling, rapid weight gain, seizures, bloody or tarry stools, pancreatitis, low potassium, or dangerously high blood pressure, notes Drugs.com. Thus, a parent of a child with CAH should be aware of these possible side effects and alert the doctor if they are noticed.
Surgery
In female patients with CAH, surgery may be necessary to correct ambiguous genitalia, states MayoClinic.com. Surgeons can perform reconstructive surgery to correct the appearance and function of the female genitalia, reducing the size of the clitoris and widening the vaginal opening. Furthermore, this surgery is performed early, between 2 and 6 months of age, according to MayoClinic.com. Risks of surgery include infection, excessive bleeding and genital damage. Thus, the risks and benefits of this procedure should be thoroughly discussed with the surgeon before proceeding.
