Friday, January 11, 2013

3-Beta-Hydroxysteroid Dehydrogenase Deficiency

  • low glucocorticoids
  • low mineralocorticoids
  • high DHEA
  • Females: clitoromegaly and labial fusion, acne, premature pubarche, advanced linear and skeletal growth, hirsutism, polycystic ovaries.
  • Males: newborn male are  incompletely masculinized, may have hypospadias, ambiguous genitalia, poor virilization, gynecomastia.
  • hypoNa, hypovolemia.

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