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

Treatment of Congenital Adrenal Hyperplasia (CAH)

The treatment of Congenital Adrenal Hyperplasia requires both glucocorticoid and mineralocorticoid replacement therapy, with hydrocortisone as the preferred glucocorticoid and fludrocortisone for mineralocorticoid replacement.

Medication Regimen

Glucocorticoid Replacement

• Hydrocortisone is the first-line glucocorticoid treatment for CAH

  • Dosing: 15-25 mg/day divided into 2-3 doses for adults 1
  • Pediatric dosing: Based on weight 1
    • Up to 10 kg: 25 mg/24h
    • 11-20 kg: 50 mg/24h
    • Over 20 kg (prepubertal): 100 mg/24h
    • Over 20 kg (pubertal): 150 mg/24h

• Administration schedule:

  • Typically divided into 2-3 doses with the highest dose in the morning to mimic physiologic cortisol secretion
  • First dose upon awakening, last dose 4-6 hours before bedtime 2

Mineralocorticoid Replacement

• Fludrocortisone is required for primary adrenal insufficiency (which includes classic CAH)
  • Standard dose: 0.1 mg daily 3
  • Dose range: 0.1 mg three times a week to 0.2 mg daily 3
  • Adjustment: Reduce to 0.05 mg daily if transient hypertension develops 3

Monitoring and Dose Adjustment

Clinical Monitoring

• Regular assessment of:
  • Clinical symptoms
  • Weight
  • Blood pressure
  • Serum electrolytes
  • Morning cortisol levels 1

Signs of Inadequate Treatment

• Under-replacement: Lethargy, nausea, poor appetite, weight loss, increased pigmentation 2
• Over-replacement: Weight gain, insomnia, peripheral edema, symptoms of Cushing's syndrome 2, 1

Stress Dosing

Stress Dose Adjustments

• Minor illness/stress: Double or triple the usual daily dose 1
• Moderate stress: Hydrocortisone 50-75 mg/day in divided doses 1
• Severe stress: Hydrocortisone 100 mg IV immediately followed by 100-300 mg/day as continuous infusion or divided doses every 6 hours 1

Surgical Situations

• Major surgery: Hydrocortisone 100 mg IV at induction, followed by continuous infusion of 200 mg/24h or 50 mg every 6h IM 1
• Minor/intermediate surgery: Double or triple the usual daily hydrocortisone dose 1

Special Considerations

Pregnancy and Delivery

• Higher maintenance doses may be required during later stages of pregnancy
• Labor and delivery: Hydrocortisone 100 mg at onset, then either continuous IV infusion of 200 mg/24h or 50 mg intramuscularly every 6 hours until after delivery 1

Adrenal Crisis Management

• Immediate treatment: Hydrocortisone 100 mg IV bolus
• Follow with: 100-300 mg/day as continuous infusion or divided doses every 6 hours
• Fluid replacement: Rapid IV administration of isotonic saline 1

Long-term Complications and Management

Cardiovascular and Metabolic Complications

• Patients with CAH have increased risk for metabolic disorders 4
• Regular monitoring of cardiovascular risk factors is essential 5

Growth and Fertility

• Optimizing glucocorticoid dosing is crucial to prevent growth impairment 5
• Both males and females with CAH may experience fertility issues 4, 6
• Males may develop testicular adrenal rest tumors (TART) requiring monitoring 5, 6

Emerging Treatment Approaches

Recent advances in CAH treatment include:

• Modified release oral glucocorticoids
• Continuous subcutaneous hydrocortisone pumps
• Non-glucocorticoid approaches to address androgen excess 7

Patient Education

• Patients should wear a Medic Alert Bracelet and carry a steroid card 2
• Education on stress dosing and emergency administration of injectable glucocorticoids is essential 1
• Regular follow-up with endocrinologists is necessary for dose adjustments and monitoring for complications

The goal of treatment is to replace deficient hormones while controlling androgen excess, with careful attention to avoiding the adverse effects of exogenous glucocorticoid therapy 4. Treatment requires careful monitoring and dose adjustments throughout the patient's lifetime.