Diagnosis & Treatment
Of Congenital Adrenal Hyperplasia

The physical signs in Congenital Adrenal Hyperplasia (CAH) are not always apparent and thus may not be easily recognized or diagnosed clinically, especially with male newborns who have no outward physical signs of the condition. Since CAH is fairly uncommon, even female newborns with undifferentiated external genitalia may be misdiagnosed for some medical condition other than Congenital Adrenal Hyperplasia.

In infants and young children, CAH can be confirmed by taking a small blood sample. A simple blood test, the 17-Hydroxyprogesterone Test, abbreviated as the 17OHP Test, can accurately measure the precursor metabolate raw material, which makes cortisol. This raw material is
known as 17-Hydroxyprogesterone.

Children with Congenital Adrenal Hyperplasia are unable to make cortisol, and their blood sample would have very low levels of cortisol. As a result of not making cortisol, the raw material used to make cortisol builds up in excess, and the blood sample would indicate an unusually high level of 17-Hydroxyprogesterone. It is also possible to measure the salt level in the body, by measuring the Plasma Renin Activity (RPA) of the blood sample. A high level of plasma renin in the blood means that the salt level in the body is low. In the same blood sample, measurements of sodium and potassium can also be done.

Whether a newborn is male or female, the early diagnosis and the commencement of proper treatment for Congenital Adrenal Hyperplasia is extremely crucial. Without treatment, a newborn with the classical form of CAH, the severe salt-losing form, will not survive.

Females usually require some corrective surgery as an infant and again in later life. However, treatment started early in pregnancy may reduce the degree of virilization (masculinization) and could possibly reduce the need for corrective surgery (go read Prenatal Diagnosis of CAH).

The aim of treatment is to provide the body with the ability to maintain:

        a normal energy level,
        the proper balance of salt and water in the body,
        normal growth, and
        sexual maturity at puberty.

Medication comes in the form of synthetic cortisone (Hydrocortisone), and synthetic aldosterone (Fludrocortisone), commonly called Florinef. Besides hydrocortisone, other synthetic cortisol medication include Cortisone, Prednisolone, and Dexamethasone. They differ in strength and duration of action.

In non salt-wasting CAH, only synthetic cortisol (Hydrocortisone) need be given. For the salt-wasting CAH, the body cannot produce enough cortisol and aldosterone, therefore treatment involves giving Hydrocortisone, Fludrocortisone, and salt tablets.

Fludrocortisone (Florinef) comes in tablet form. It is manufactured by Bristol-Myers Squibb, and comes in a bottle of 100 tablets of 0.1mg each. Hydrocortisone tablets are manufactured by Orion Pharmaceutica, and comes in a bottle of 30 tablets of 10 mg each. Both types of medication are usually classified as "Poisons" or "Prescription Drugs", that means it cannot be bought from a pharmacy without a doctor’s prescription. The use of these medication must be closely monitored by a doctor (go read Effects of Steroid Medication).

Treatment of Congenital Adrenal Hyperplasia is life-long, and requires periodic medical check-ups, blood tests and bone-age analysis to review and adjust the medication. Generally, as a child gets older, the medication has to be increased in proportion to body weight. With proper medication and medical supervision, children with CAH can live a full and normal life.

During periods of increased stress and  illness, the body will require additional amounts of synthetic cortisol (Hydrocortisone). During an illness like a high fever, the dose of hydrocortisone is doubled or tripled.

If the infant or child cannot take the medication by mouth due to vomiting, it is important the infant or child be seen by an Endocrinologist, who is the best person to decide whether hospitalization is necessary.

If a child requires any form of surgery, especially if local or general anesthetic is used, it is extremely important that the child's Endocrinologist be notified, because surgery requires that special doses of hydrocortisone be given, either by injection into a muscle or through a vein.

It is a good idea to obtain a special Medical Alert Bracelet
which can carry important information for a doctor
in the event of an emergency.