1) Diagnosis of and monitoring therapeutic response in, congenital adrenal hyperplasia due to 11 -hydroxylase deficiency. 11-Deoxycortisol
accumulates in the peripheral circulation when there is a deficiency of 11 -hydroxylase activity. 11-Deoxycortisol should be measured when congenital adrenal hyperplasia is suspected on clinical grounds but serum 17-hydroxyprogesterone values are equivocal.
2) Assessment of adrenal response in the metyrapone test. Metyrapone is an inhibitor of 11 -hydroxylase activity. In the differential diagnosis of Cushing’s syndrome, metyrapone is given and subsequent changes in serum concentrations of 11-deoxycortisol provide strong (but not absolute) indicators of the site of the primary lesion.
Adult reference range 0.7 – 2.7 nmol/L. No specific paediatric reference range quoted, however each result will have interpretative comments. Please contact the laboratory if you wish to discuss.
In neonates the sample should be taken at least 48 hours post birth.
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Last updated: 06/12/2019