11β-hydroxylase deficiency laboratory findings

Laboratory findings consistent with the diagnosis of 11β-hydroxylase deficiency include elevated 17-hydroxyprogesterone, elevated androstenedione, elevated urinary 17-ketosteroids, and decreased renin.

Laboratory findings consistent with the diagnosis of 11β-hydroxylase deficiency include:^[1][2]

• Elevated serum levels of 11-deoxycorticosterone
• Elevated 17-hydroxyprogesterone
• Elevated androstenedione
• Elevated urinary 17-ketosteroids
• Elevated urinary tetra hydrometabolites
• Decreased cortisol
• Decreased aldosterone
• Decreased renin
• Hypokalemia

Genetic testing can detect approximately 95 percent of mutations. Genetic testing should only be done if the laboratory tests are non diagnostic or for purposes of genetic counseling.