Adrenal

Congenital Adrenal Hyperplasia

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Congenital Adrenal Hyperplasia

  • Definition
  1. Inherited Adrenal Insufficiency onset at birth
  • Pathophysiology
  1. Autosomal Recessive inheritance
  2. Group of defective enzymes in Cortisol Synthesis
    1. Six different enzyme deficiencies possible
    2. See Steroid Hormone Pathway
    3. 21-Hydroxylase deficiency is most common (90%)
  • Types
  1. Complete Enzyme Deficiency (Classic, Salt-losing)
    1. Onset as newborn with adrenal crisis by 2 weeks old (as maternal cortisol wanes)
    2. Most common cause of Ambiguous Genitalia in females
      1. Female genitalia are more significantly affected than male genitalia
      2. Females are therefore typically diagnosed in newborn nursery (as opposed to boys who present later)
  2. Partial Enzyme Deficiency (Simple virilizing)
    1. Adrenal Insufficiency occurs only as stress reaction
    2. Causes Androgen Excess in later childhood
      1. Precocious Puberty
      2. Hirsutism
      3. Acne Vulgaris
  • Symptoms
  • Presenting
  1. Vomiting
  2. Lethargy
  3. Decreased oral intake
  • Diagnosis
  1. Classic (complete deficiency) type in newborns
    1. 17-Hydroxyprogesterone increased
  2. Non-classic (Partial deficiency) type in children
    1. 17-Hydroxyprogesterone increased 1 hour post-ACTH
  • Labs
  1. Serum electrolytes
    1. Hyponatremia
    2. Hypochloremia
    3. Hyperkalemia
    4. Hypoglycemia
  2. Adrenal labs
    1. Low cortisol
    2. Low Aldosterone
    3. High renin
  3. Sex hormone abnormalities depend on enzyme deficiency
    1. Virilizing if 21-Hydroxylase or 11-Hydroxylase
    2. Testosterone increased in girls
    3. Androstenedione increased in girls and boys
  • Diagnostics
  1. Electrocardiogram (EKG)
    1. Indicated for Hyperkalemia
  • Management
  • Initial priorities
  1. Rehydration with Normal Saline in small boluses (10 cc/kg)
  2. Correct Hypoglycemia
  3. Hydrocortisone IV