21 Hydroxylase deficiency
  • Autosomal recessive adrenogenital syndrome
  • most common enzyme deficiency (95% of cases)
  • deficiency in 21-hydroxylase causes hypocortisolism —> increase in ACTH (no negative feedback) & increase in 17-ketosteroids, testosterone and DHT, decrease in cortisol & aldosterone
    • increase in ACTH —> hyperpigmentation, adrenal hyperplasia
    • increase in testosterone —> precocious puberty in males, ambiguous genetlia in females
    • decrease in cortisol & aldosterone (because of enzyme block) —> Na and H2O loss, low BP, hyperkalemia
cah21.gif
http://www.vivo.colostate.edu/hbooks/pathphys/endocrine/adrenal/cah21.gif
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