Approach
The goal of therapy is to replace the deficient hormones. Hydrocortisone and other synthetic glucocorticoids are used as cortisol replacement, while fludrocortisone is prescribed for aldosterone substitution. An additional goal of treatment with daily glucocorticoids is to suppress excessive adrenocorticotropic hormone (ACTH) secretion, and therefore, reduce adrenal androgen concentrations.
Nonclassical CAH
The phenotype of nonclassical congenital adrenal hyperplasia (CAH) is variable and many individuals never come to medical attention. Therefore, glucocorticoid treatment is not necessary for asymptomatic people with nonclassical CAH.[14]
Treatment is recommended for children with accelerated bone maturation that is likely to affect adult height, and adolescents with overt virilization.[14] Many of these patients are able to stop glucocorticoid therapy after reaching adulthood. All patients treated with glucocorticoids and those with suboptimal cortisol response to ACTH stimulation should be prescribed and instructed in the use of stress dosing for illness, trauma or surgery.
People with nonclassical CAH have intact mineralocorticoid function and do not require treatment with fludrocortisone.
Classical CAH: maintenance therapy
Glucocorticoids
Patients with classical CAH require lifelong administration of glucocorticoids. The standard treatment for children with classical 21-hydroxylase deficiency is glucocorticoid replacement therapy, usually in the form of hydrocortisone.[14] Replacing cortisol with a glucocorticoid both corrects the deficiency in cortisol secretion and suppresses adrenocorticotropic hormone (ACTH) overproduction. Proper treatment with glucocorticoid reduces stimulation of the androgen pathway, thus preventing further virilization and allowing normal growth and development. Since the goal of treatment is both cortisol replacement and reducing adrenal androgens, it is common for patients to require more than the typical dose of baseline cortisol production.
After linear growth is complete, hydrocortisone remains the recommended glucocorticoid option; however, longer-acting glucocorticoids, such as prednisone (which can suppress growth in children), are acceptable.[14] Dexamethasone administration has been linked to unfavorable outcomes, such as weight gain and low bone mass, and its use has decreased over the years.
In children, growth velocity, bone age advancement and puberty should be monitored closely. Adults should be monitored for reproductive function and chronic complications.
Mineralocorticoids
Subclinical aldosterone deficiency is present in all forms of 21-hydroxylase deficiency, and the deficiency becomes clinically apparent in patients with the salt-wasting form of classical CAH.[14] Fludrocortisone is used for patients with clinical evidence of salt-wasting. Salt-wasting is more severe in the newborn because of transient physiologic resistance to mineralocorticoids. Infants with classical CAH require additional treatment with sodium chloride (added to breast milk or formula) in order to achieve adequate sodium repletion and normalization of plasma renin activity.[14] Sodium chloride supplementation is usually not necessary after infancy.[14]
Stress dosing of glucocorticoids
During periods of stress (e.g., surgery, febrile illness, shock), all patients with classical CAH require increased amounts of glucocorticoid.[14] Typically, 2 to 3 times the normal dose is administered orally, or by intramuscular injection when oral intake is not tolerated. Higher doses may be required during surgical procedures. Stress doses of glucocorticoids should continue around the clock until symptoms resolve. Affected patients should always carry information (medical alert badge) regarding corticosteroid dosing to alert and inform healthcare personnel in case of emergency. The mineralocorticoid dose does not need to be increased during stress.
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