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Congenital Adrenal Hyperplasia (CAH)

Topic updated on 10/14/17 7:11pm

  • adrensyth
Introduction
  • Adrenal enzyme deficiency resulting in increase in products proximally and decrease in products distally
    • results in hyperplasia because there is an inability to produce the final adrenal end products (e.g. cortisol) so the pituitary stimulation is not shut off (e.g. ACTH)
  • There are several types
    • 21-hydroxylase deficiency
    • 11-hydroxylase deficiency
    • 17-hydroxylase deficiency
  • Presentation
    • depends on the location of the enzyme block
    • 17-OH corticoids include 11-deoxycortisol and cortisone
    • 17-ketosteroids include DHEA and androstenedione
  • Treatment
    • glucocorticoids
    • mineralocorticoids (if deficient)
    • sex hormones (if deficienct at time of puberty)
21-hydroxylase Deficiency
  • Most common type
  • Presentation 
    • ↑ 17-ketosteroids
      • has weak androgen activity
      • results in
        • ambiguity of female genitalia at birth 
        • prococious puberty in both sexes 
    • ↑ 17-hydroxyprogesterone
    • ↓ 17-hydroxycorticoids
    • ↓ mineralocorticoids
      • hyponatremic hypotension
    • ↑ ACTH
      • diffuse skin pigmentation
11-hydroxylase Deficiency
  • Presentation
    • ↑ 17-ketosteroids
      • ambiguity of female genitalia at birth 
      • prococious puberty in both sexes
    • ↑ 17-hydroxyprogesterone
    • ↑ 17-hydroxycorticoids
    • ↑ mineralocorticoids
      • hypernatremic hypertension
        • ↑ 11-deoxycorticosterone (a mineralocorticoid)
        • ↓ aldosterone
    • ↑ ACTH
      • diffuse skin pigmentation
17-hydroxylase Deficiency
  • Presentation
    • ↓ 17-ketosteroids
      • ambiguity of male genitalia at birth
      • puberty delay in both sexes
    • ↓ 17-hydroxyprogesterone
    • ↓ 17-hydroxycorticoids
    • ↑ mineralocorticoids
      • hypernatremic hypertension
    • ↑ ACTH
      • diffuse skin pigmentation


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