NCLEX Review Guide: Congenital Adrenal Hyperplasia (CAH)

Understanding CAH

• Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder caused by enzyme deficiencies in cortisol synthesis, most commonly 21-hydroxylase deficiency (90-95% of cases).
• The enzyme deficiency leads to decreased cortisol production and increased ACTH secretion, causing adrenal hyperplasia and excess androgen production.

Assessment Findings

• Female infants present with ambiguous genitalia including enlarged clitoris, fused labia, and masculinized external genitalia while internal structures remain female.
• Male infants may appear normal at birth but develop precocious puberty with early growth acceleration and advanced bone age.
• Salt-wasting crisis symptoms include vomiting, dehydration, hyponatremia, hyperkalemia, and shock occurring within first 2-3 weeks of life.

Diagnosis & Treatment

• Primary diagnostic test is elevated 17-hydroxyprogesterone levels along with increased ACTH and decreased cortisol levels.
• Newborn screening programs test for CAH using 17-OHP levels from heel stick blood samples, allowing early detection before crisis occurs.
• Treatment involves lifelong glucocorticoid replacement therapy with hydrocortisone to suppress ACTH and replace cortisol deficiency.
• Salt-wasting forms require mineralocorticoid replacement with fludrocortisone and increased sodium intake to prevent salt-wasting crises.

Emergency Management of Salt-Wasting Crisis

1. Immediately assess airway, breathing, circulation
2. Establish IV access and begin normal saline bolus 20 mL/kg
3. Administer stress-dose hydrocortisone 25-100 mg IV
4. Monitor electrolytes and correct hyponatremia/hyperkalemia
5. Provide glucose if hypoglycemic
6. Continue maintenance fluids and monitor vital signs closely

Comprehensive Care Approach

• Educate families about medication administration, stress-dose management, and recognition of adrenal crisis symptoms including vomiting, lethargy, and dehydration.
• Coordinate care with multidisciplinary team including endocrinologist, urologist, psychologist, and genetic counselor for comprehensive management.
• Support families through gender assignment decisions and surgical planning for females with ambiguous genitalia, emphasizing informed decision-making.
• Monitor for complications including growth acceleration, early puberty, bone age advancement, and fertility issues requiring ongoing assessment and intervention.

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