Desoxycortisol (11-)
Material: | 1 ml serum |
Methods: | Flüssigkeitschromatographie-Massenspektrometrie (LC-MS/MS) → LC-Tandem-Massenspektrometrie | Reference range | 0,1 – 10,4 µg/l |
Indication | Suspicion of AGS (11-beta-hydroxylase defect). Rare form (Prevalence 1:100.000!) |
Please note | The deficiency of 11-beta-hydroxylase leads to an accumulation of 11-desoxycorticosteron and 11-desoxycortisol in the blood. As desoxycorticosterone has a mineral corticoid effect, around 2/3 of the affected children, contrary to the 21-hydroxylase deficiency and 3-beta-hydroxysteroid-dehydrogenase defect, show hypokalemia and hypertension. Female babies show signs of virilization whilst male babies can show signs of precocious puberty, however these signs are often missed. Male patients can, same as with 21-hydroxylase deficiency, develop testicular adrenal rest tumors. A clinically milder “non-classical” late onset form is known of the 11-beta-hydroxylase defect. Mainly women show signs of hirsutism and cycle irregularities. Hypokalemia and hypertension are rarely seen in adults. If suspected, after 21-hydroxylase deficiency has been ruled out, an ACTH stimulation test and determination of 11-desoxycortisol should be carried out. |
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