Friday 11 May 2018


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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