What is the primary treatment for Congenital Adrenal Hyperplasia (CAH)?

Primary Treatment for Congenital Adrenal Hyperplasia (CAH)

The primary treatment for Congenital Adrenal Hyperplasia (CAH) consists of glucocorticoid replacement (typically hydrocortisone) and mineralocorticoid replacement (fludrocortisone) to replace deficient hormones and suppress excessive androgen production. 1, 2

Glucocorticoid Replacement

• Hydrocortisone is the preferred glucocorticoid for replacement therapy in CAH, typically administered in a total daily dose of 15-25 mg divided into 2-3 doses 1, 2
• Common dosing schedules include three daily doses: 10 mg in the morning, 5 mg at midday, and 2.5 mg in the afternoon 2
• In children, hydrocortisone dosing should be 6-10 mg/m² of body surface area 3
• The first dose should be taken immediately upon waking, and the last dose should be taken at least 6 hours before bedtime to avoid sleep disturbances 1
• Cortisone acetate can be used as an alternative at 18.75-31.25 mg daily in divided doses 1

Mineralocorticoid Replacement

• Fludrocortisone (50-200 μg once daily) is required for patients with CAH to prevent salt wasting 1, 4
• Higher doses (up to 500 μg daily) may be needed in children and younger adults 5
• Patients should be advised to consume salt and salty foods without restriction 5, 1
• Under-replacement with mineralocorticoids is common and may predispose patients to recurrent adrenal crises 5

Monitoring Treatment Efficacy

• Regular monitoring of treatment includes:
  • Blood pressure in both supine and standing positions 5
  • Serum electrolytes (sodium and potassium) 5, 1
  • Clinical symptoms such as salt cravings, lightheadedness, peripheral edema 5
  • Growth rate and bone age in children and adolescents 6, 7
  • Androgen levels (17-hydroxyprogesterone, androstenedione, testosterone) 6

Dose Adjustments

• Fludrocortisone dose should be increased with:
  • Orthostatic hypotension 5
  • Persistent salt cravings despite adequate sodium intake 5
  • Hyponatremia or hyperkalemia 5
• Fludrocortisone dose should be decreased with:
  • Development of hypertension (dose should be reduced, but not stopped) 5
  • Peripheral edema 5
• Glucocorticoid doses should be adjusted based on:
  • Growth velocity and bone age in children 6, 7
  • Androgen levels 6
  • Clinical signs of over or under-replacement 1

Management During Stress and Illness

• During minor illnesses with fever, the usual glucocorticoid dose should be doubled or tripled 1, 2
• Adrenal crisis requires immediate treatment with:
  • Hydrocortisone 100 mg IV bolus followed by 100 mg every 6 hours 1, 2
  • Rapid IV administration of isotonic saline (0.9%) at an initial rate of 1 L/hour 1, 2
• Major surgery requires 100 mg hydrocortisone IM before anesthesia, followed by 100 mg IM every 6 hours until able to take oral medications 3, 1

Prevention of Adrenal Crisis

• All patients should wear medical alert identification jewelry 1, 2
• Patient education should emphasize the importance of increasing steroid doses during intercurrent illnesses, vomiting, injuries, or other stressors 1, 2
• Common precipitating factors for adrenal crisis include gastrointestinal illness, infections, surgical procedures, injuries, and severe allergic reactions 1

Long-term Complications and Monitoring

• Annual follow-up should include assessment of symptoms, weight, blood pressure, and serum electrolytes 1, 2
• Screening for associated autoimmune conditions, particularly thyroid dysfunction 1, 2
• Monitoring for long-term complications including:
  • Metabolic disorders 8, 9
  • Reduced fertility 8, 10
  • Osteoporosis 10, 9
  • Adrenal or testicular adrenal rest tumors 10

Common Pitfalls to Avoid

• Stopping fludrocortisone completely when hypertension develops (reduce dose instead) 5
• Failing to adjust glucocorticoid and mineralocorticoid doses during pregnancy or periods of increased physical stress 3, 5
• Using medications that interact with fludrocortisone without appropriate dose adjustments (diuretics, acetazolamide, carbenoxolone, NSAIDs) 5
• Overlooking the need for stress dosing during minor illnesses, which can precipitate adrenal crisis 1