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 crisis in infancy
- Hydrocortisone and intravenous saline and dextrose are mainstay treatment of adrenal crisis
- This treatment 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:
- Initiating and monitoring hormone replacement
- Stress coverage, crisis prevention, parental education
- Reconstructive surgery
- Optimizing growth
- 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 and androgen escape from too little glucocorticoid.
- 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.
- Mineralocorticoids are replaced in all infants with salt-wasting and in most patients with elevated renin levels.
- Fludrocortisone is the only pharmaceutically available mineralocorticoid, doses of 0.05 to 2 mg daily is recommended.
- Electrolytes, renin, and blood pressure levels are followed to optimize the dose.
Optimizing growth in congenital adrenal hyperplasia
- Glucocorticoids are essential for health and dosing is always a matter of approximation. In even mildly excessive dose, glucocorticoids can slow growth
- Adrenal androgens are readily converted to estradiol, which accelerates bone maturation and can lead to early epiphyseal closure
- Rate of growth is assessed by checking the bone age every year or two through periodic measurement of 17OHP and testosterone levels
- Gonadotropin-releasing hormone agonists such as leuprolide are used to slow bone maturation and suppress precocious puberty
- Antiandrogen such as flutamide reduce the conversion of testosterone to estradiol
- Aromatase inhibitor such as testolactone also block conversion of testosterone to estradiol
- Bilateral adrenalectomy rarely used to remove the androgen sources
- Growth hormone treatment is used to enhance growth
Childhood onset (simple virilizing) congenital adrenal hyperplasia
The mainstay of treatment is:
- Suppression of adrenal testosterone production by a glucocorticoid such as hydrocortisone
- Mineralocorticoid in cases where the plasma renin activity is high
- Suppression of central precocious puberty by leuprolide
- Aromatase inhibitior to slow bone maturation by reducing the amount of testosterone converted to estradiol, estrogen blockers are also used for the same purpose.
- Stress steroid coverage for significant illness or injury
Late onset (nonclassical) congenital adrenal hyperplasia
- Combination of very low dose of glucocorticoid (to reduce adrenal androgen production) and androgen blockers (to induce ovulation) are used in late onset congenital adrenal hyperplasia