Congenital Adrenal Hyperplasia Treatment & Management

Infants with ambiguous genitalia should be closely observed for symptoms and signs of salt wasting while a diagnosis is being established. Clinical clues include abnormal weight loss or lack of expected weight gain. Electrolyte abnormalities generally take from a few days to 3 weeks to appear because the placenta maintains the fetal electrolytes in utero. In mild forms of salt-wasting adrenal hyperplasia, salt wasting may not become apparent until an illness stresses the child.

• Patients with dehydration, hyponatremia, or hyperkalemia and a possible salt-wasting form of adrenal hyperplasia should receive an intravenous (IV) bolus of isotonic sodium chloride solution (20 mL/kg or 450 mL/m²) over the first hour, as needed, to restore their intravascular volume and blood pressure.

  • This dosage may be repeated if the blood pressure remains low.
  • Dextrose must be administered if the patient is hypoglycemic and must be included in the rehydration fluid after the bolus dose to prevent hypoglycemia.
  • After samples are obtained to measure electrolyte, blood sugar, cortisol, aldosterone, and 17-hydroxyprogesterone concentrations, the patient should be treated with glucocorticoids based on suspected adrenal insufficiency. Treatment should not be withheld while confirmatory results are awaited because it may be life preserving (see Medication).
• After the patient's condition is stabilized, treat all patients who have adrenal hyperplasia with long-term glucocorticoid or aldosterone replacement (or both), depending on which enzyme is involved and on whether cortisol and/or aldosterone synthesis is affected.
• Another approach currently under investigation is the combined use of glucocorticoid (to suppress ACTH and adrenal androgen production), mineralocorticoid (to reduce angiotensin II concentrations), aromatase inhibitor (to slow skeletal maturation), and flutamide (an androgen blocker to reduce virilization).
• Some patients develop precocious puberty, which further compromises adult height. Suppression of puberty with long-acting gonadotropin-releasing hormone (GnRH) agonists while simultaneously stimulating growth with growth hormone may partially improve the patient's height.

The Endocrine Society's 2010 clinical practice guidelines note the following:^[6]

• Prenatal treatment for CAH should be regarded as experimental.
• Glucocorticoid therapy should be carefully titrated to avoid Cushing syndrome.
• Mineralocorticoid replacement is encouraged. In infants, mineralocorticoid replacement and sodium supplementation are encouraged.
• Use of agents to delay puberty and promote growth are experimental.
• Psychiatric support should be encouraged for patients with adjustment problems.
• Medication should be used judiciously during pregnancy and in symptomatic patients with nonclassical CAH.

Infants with ambiguous genitalia require surgical evaluation and, if needed, plans for corrective surgery.

• The traditional approach to the female patient with ambiguous genitalia due to adrenal hyperplasia is clitoral recession early in life followed by vaginoplasty after puberty.

  • Vocal groups of patients with disorders of sexual differentiation (eg, Intersex Society of North America) have recently challenged this approach.
  • Some female infants with adrenal hyperplasia have only mild virilization and may not require corrective surgery if they receive adequate medical therapy to prevent further virilization.
• Bilateral adrenalectomies have been suggested in the management of virilizing forms of adrenal hyperplasia in order to prevent further virilization and advancement of skeletal maturation.^[7] This approach is experimental and should be considered only in the context of a controlled study.

The Endocrine Society's 2010 clinical practice guidelines note the following:^[6]

• Adrenalectomy should be avoided.
• While surgical reconstruction may not be necessary during the newborn period in mildly virilized girls, it may be appropriate in severely virilized girls. It should be a single stage genital repair, performed by experienced surgeons.

An endocrinologist should be consulted when adrenal insufficiency is suspected.

An experienced surgeon is required if genitalia are ambiguous or inconsistent with genetic sex and corrective surgery is contemplated.

A consultation with a geneticist is useful in establishing the genetic defect causing the disorder. In parents contemplating a subsequent pregnancy, genetic counseling for prenatal diagnosis and treatment of this disorder is important.

Patients with congenital adrenal hyperplasia should be on an unrestricted diet.

Patients should have ample access to salt because salt wasting is common in some forms of the disease.

Infants who have salt wasting generally benefit from supplementation with NaCl (2-4 g/d) added to their formula.

Caloric intake may need to be monitored and restricted if excess weight gain occurs because glucocorticoids stimulate appetite.

Activity restriction is not necessary if appropriate glucocorticoid and mineralocorticoid therapy is provided.