21-hydroxylase deficiency medical therapy

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Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Microchapters

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Ahmad Al Maradni, M.D. [2]

Overview

The mainstay of therapy for congenital adrenal hyperplasia due to 21-hydroxylase deficiency is glucocorticoid replacement.

Medical Therapy

Early-onset: Severe 21-hydroxylase deficient congenital adrenal hyperplasia

Salt-wasting crises in infancy

As ill as these infants can be, they respond rapidly to treatment with hydrocortisone and intravenous saline and dextrose quickly restores blood volume, blood pressure, and body sodium content, and reverses the hyperkalemia. With appropriate treatment, most infants are out of danger within 24 hours.

Long-term management of congenital adrenal hyperplasia

Management of infants and children with congenital adrenal hyperplasia is complex and warrants long term care in a pediatric endocrine clinic. After the diagnosis is confirmed, and any salt-wasting crisis averted or reversed, major management issues include:

  1. Initiating and monitoring hormone replacement
  2. Stress coverage, crisis prevention, parental education
  3. Reconstructive surgery
  4. Optimizing growth
  5. Optimizing androgen suppression and fertility in women with congenital adrenal hyperplasia
Hormone replacement
  • Glucocorticoids provide a reliable substitute for cortisol and reduce ACTH level, reducing ACTH also reduces the stimulus for continued hyperplasia and overproduction of androgens in both sexes
  • Hydrocortisone or liquid prednisolone is preferred in infancy and childhood
  • Prednisone or dexamethasone are often more convenient for adults
  • Dose is typically started at the low end of physiologic replacement (6-12 mg/m2 but is adjusted throughout childhood to prevent both growth suppression from too much glucocorticoid and androgen escape from too little
  • Serum levels of 17OHP, testosterone, androstenedione, and other adrenal steroids are followed for additional information, but may not be entirely normalized even with optimal treatment.
Optimizing growth in congenital adrenal hyperplasia

Childhood onset (simple virilizing) congenital adrenal hyperplasia

The mainstay of treatment is:

Late onset (nonclassical) congenital adrenal hyperplasia

Treatment may involve a combination of very low dose of glucocorticoid to reduce adrenal androgen production and any of various agents to block the androgen effects and/or induce ovulation.

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