Laboratory Medicine Program

11-Deoxycortisol

Clinical Decription:
1) Diagnosis and monitoring therapeutic response of congenital adrenal hyperplasia due to 11ß-hydroxylase deficiency. 11-Deoxycortisol is the immediate precursor of cortisol and is typically increased when adrenocorticotropic hormone (ACTH) levels are increased such as in Cushing's disease or in congenital adrenal hyperplasia due to11-ß-hydroxylase deficiency. The cortisol levels remain low in 11-ß-hydroxylase deficiency induced congenital adrenal hyperplasia resulting in increased ACTH production and increased serum and urine 11-deoxycortisol levels. Diagnosis of 11ß-hydroxylase deficiency: Normal adults: < 2.60 nmol/L; Patients with untreated 11-ß-hydroxylase deficiency: >100 nmol/L. 2) Assessment of adrenal response in the metyrapone test. Metyrapone inhibits CYP11B1 (11-ß-hydroxylase) and the conversion of 11-deoxycortisol to cortisol. The normal response to metyrapone administration is decreased serum cortisol levels and consequently increased pituitary ACTH production and subsequent increase in 11-deoxycortisol. The absence of increased 11-deoxycortisol following metyrapone administration is indicative of pituitary or adrenocortical insufficiency. Patients with Cushing’s syndrome caused by ectopic ACTH or adrenal tumors are not responsive to metyrapone, such that ACTH and 11-deoxycortisol levels are unchanged. Overnight metyrapone test: Normal subjects receiving a single dose of metyrapone have values > 200 nmol/L. In patients with hypopitutarism or Addison’s disease, no response. For the test to be valid the corresponding cortisol concentration should be < 200 nmol/L.

Method: LC-MS/MS

Component Tests Used: n/a

Reference Ranges Used:
Reference ranges for this test are not available online. However, they are included in all test results. For more information, please call us.

Specimen Type: Serum
Volume: 1.0 mL (minimum: 0.5 mL)

Shipping: Frozen at -20C

Special Instructions: n/a

Testing Schedule(s): 1 week.

Turnaround Time: 10 Business days

For more information, call 416.340.5227 or 1.866.865.5227