Enzyme Deficiencies Flashcards
1
Q
21 hydroxylase deficiency
A
increased sex hormones decreased mineralocorticoids and cortisol hypotension hyperkalemia increased renin activity increased 17-hydroxyprogesterone
2
Q
Presenting sx of 21 hydroxylase deficiency
A
infants: salt wasting
childhood: precocious puberty
xx: virilization
3
Q
17-alpha-hydroxylase deficiency
A
increased minaralocorticoids
decreased cortisol
decreased sex hormones
HTN, hypokalemia, decreased DHT
4
Q
Presenting sx of 17-alpha-hydroxylase deficiency
A
XY: pseudo-hermaphroditism
XX: lack secondary sexual development
5
Q
11-beta-hydroxylase deficiency
A
decreased aldo,
increased 11-deoxycorticosterone–> increases BP
decreased cortisol
increased sex hormones
6
Q
Presenting sx of 11-beta-hydroxylase deficiency
A
HTN, XX: virilization
