How does adrenal hyperplasia present to the emergency department (ED)?

Adrenal Hyperplasia Presentation in the Emergency Department

Patients with adrenal hyperplasia typically present to the emergency department with symptoms of adrenal crisis, which is a life-threatening condition requiring immediate intervention with fluid resuscitation and stress-dose hydrocortisone. 1, 2

Clinical Presentations of Adrenal Hyperplasia in the ED

Acute Adrenal Crisis

• Severe symptoms (Grade 3-4):
  • Malaise, fatigue, nausea, vomiting
  • Abdominal pain (sometimes with peritoneal irritation)
  • Muscle pain or cramps
  • Dehydration leading to hypotension and shock
  • Impaired cognitive function, confusion, loss of consciousness, coma 1
  • Refractory hypotension despite fluid and vasopressor administration 2

Laboratory Findings in Adrenal Crisis

• Hyponatremia
• Hyperkalaemia
• Increased creatinine (prerenal renal failure)
• Hypoglycemia (especially in children)
• Mild hypercalcemia 1

Congenital Adrenal Hyperplasia Presentations

• Classic (severe) form:

  • Life-threatening adrenal crises requiring emergency intervention
  • In neonates: atypical genitalia (in 46,XX karyotype) 3

• Non-classic (mild) form:

  • Generally doesn't present as emergency unless triggered by severe stress
  • May have chronic symptoms of androgen excess (hirsutism, acne, menstrual irregularities) 3, 4

Emergency Management Algorithm

1. Immediate Interventions for Suspected Adrenal Crisis

• Do not delay treatment for diagnostic procedures
• Draw blood for serum cortisol, ACTH, electrolytes (Na, K, creatinine, urea, glucose)
• Administer immediately:
  • Hydrocortisone 100 mg IV bolus 1, 2
  • Rapid intravenous 0.9% saline (1 L over an hour) 1
  • Continue IV isotonic saline infusion at slower rate for 24-48 hours 1

2. Subsequent Management

• Parenteral glucocorticoids should be tapered over 1-3 days to oral maintenance therapy 1
• Monitor hemodynamics and electrolytes frequently 1, 2
• Identify and treat precipitating conditions (infections, surgical procedures, injuries) 1

Diagnostic Workup After Stabilization

Primary vs. Secondary Adrenal Insufficiency

Type	ACTH Level	Cortisol Level	Electrolytes	Hyperpigmentation
Primary	High	Low	↓Na, ↑K	Present
Secondary	Low	Low	Generally normal	Absent
[2]

For Congenital Adrenal Hyperplasia

• Urine steroid profile
• Sequencing of steroidogenic genes (e.g., CYP21B) 1
• Consider adrenal CT to rule out other causes 1

Common Pitfalls and Caveats

1. Delayed recognition: Adrenal crisis is often misdiagnosed as gastroenteritis, sepsis, or other causes of shock 5

2. Failure to administer stress-dose steroids: Patients with known adrenal insufficiency often have to argue with ED staff to receive emergency treatment 1

3. Inadequate fluid resuscitation: Patients require significant volume replacement in addition to steroids 1, 2

4. Missing concomitant endocrinopathies: Patients with adrenal hyperplasia may have other endocrine disorders that need attention 1, 6

5. Lack of follow-up planning: All patients need education on stress dosing and should receive a medical alert bracelet for adrenal insufficiency 1

By recognizing these presentations and following the emergency management protocol, clinicians can significantly reduce morbidity and mortality associated with adrenal hyperplasia presenting to the emergency department.