11-beta-hydroxylase
is
the second most common variant of CAH and accounts for approximately 5%
of cases. Deficiency of 11
beta-hydroxylase results in a loss of cortisol; hence, due to feedback
mechanisms, there
is an increase in ACTH and
a subsequent increase in production of 11-deoxycorticosterone. Diagnosis is made by measuring
11-deoxycortisol, which is typically
high. In the classic form, other hormones that may be elevated include DOC (a potent mineralocorticoid), urinary 17-
ketosteroids, and urinary tetra hydrometabolites.
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