Congenital adrenal hyperplasia caused by 11beta-hydroxylase deficiency

[Renato]

11Beta-hydroxylase (CYP11B1) deficiency involves defective production of cortisol, with accumulation of mineralocorticoid precursors, resulting in hypernatremia, hypokalemia, and hypertension and increased production of adrenal androgens, leading to virilization. Diagnosis is by measurement of cortisol, its precursors, and adrenal androgens and sometimes by measuring 11-deoxycortisol after adrenocorticotropic hormone administration. Treatment is with a corticosteroid (1, 2).
11Beta-hydroxylase deficiency causes about 5 to 8% of all cases of congenital adrenal hyperplasia. Conversion of 11-deoxycortisol to cortisol and deoxycorticosterone to corticosterone is partially blocked, leading to

Increased levels of adrenocorticotropic hormone (ACTH)
Accumulation of 11-deoxycortisol (which has limited biological activity) and deoxycorticosterone (which has mineralocorticoid activity)
Overproduction of adrenal androgens (dehydroepiandrosterone [DHEA], androstenedione, and testosterone )