Congenital Adrenal Hyperplasia, Which Is Caused By A 11 ?-Hydroxylase Deficiency

11?-hydroxylase (CYP11B1) deficiency comprising the faulty production of cortisol, with an accumulation of mineralocorticoid predecessors, leading to hypernatremia, hypokalemia, hypertension, and increased production of adrenal androgens, resulting in virilization. The diagnosis is made by the determination of cortisol, its precursors and the adrenal androgens and sometimes by the determination of 11-Desoxykortisol after ACTH stimulation. The treatment is performed with corticosteroids. A 11?-hydroxylase causes approximately 5 to 8% of all cases…

September 3, 2018
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