Endocrinology Book

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Congenital Adrenal Hyperplasia

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  1. See Also
    1. Adrenal Insufficiency
    2. Steroid Hormone Pathway
  2. Definition
    1. Inherited Adrenal Insufficiency onset at birth
  3. 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%)
  4. Types
    1. Complete Enzyme Deficiency (Classic, Salt-losing)
      1. Onset as newborn with adrenal crisis by 2 weeks old
      2. Most common cause of Ambiguous Genitalia in females
    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
  5. Signs and Symptoms
    1. See Adrenal Insufficiency
    2. See Ambiguous Genitalia
    3. See Precocious Puberty
  6. 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
  7. Labs
    1. Serum electrolytes
      1. Hyponatremia
      2. Hypochloremia
      3. Hyperkalemia
      4. Hypoglycemia
    2. Adrenal labs
      1. Low cortisol
      2. 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

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