The screening protocol included one sample two-tier testing with measurement of 17 [alpha]-hydroxyprogesterone (17-OHP) the most abundant substrate for the CYP21 enzyme by fluoroimmunoassay in the first step in dried blood spots obtained on the 3-5th days of life followed by steroid profiling in the same dried blood spots using liquid chromatography-tandem mass spectrometry (LC-MS) method to measure 17-OHP, 21-deoxycortisol, cortisol, 11-deoxycortisol
and androstenedione as a secondtier test in those with positive initial screening.
An adequate response was defined by a rise of ACTH from baseline to >106 pg/mL (23.3 pmol/L) and an 11-deoxycortisol
(11DOC) rise to >208 nmol/L.
Therefore, it was perhaps unsurprising that intermediates such as 11-deoxycortisol
, 17-hydroxypregenenolone, and pregnenolone provided discrimination of adrenocortical carcinoma from other adrenal lesions using serum (1).
Lack of increase in ACTH and 11-deoxycortisol
levels after metyrapone administration is diagnostic of ACTH deficiency.
Pretorius, "Measurement of cortisol, cortisone, prednisolone, dexamethasone and 11-deoxycortisol
with ultra high performance liquid chromatography-tandem mass spectrometry: application for plasma, plasma ultrafiltrate, urine and saliva in a routine laboratory," Journal of Chromatography B, vol.
Levels of 11-deoxycortisol
and cortisone rose but did not achieve statistical significance.
On 6/18/13, her unstimulated serum 11-deoxycortisol
concentration was impressively elevated at 91ng/dL (<37ng/dL) consistent with a nonclassic 11-hydroxylase deficiency.
One of the enzymes affected is 11-beta-hydroxylase , which is responsible for the conversion of 11-desoxycorticosterone to corticosterone (both hormones possessing mineralocorticoid activity and being precursors to aldosterone) and 11-deoxycortisol
to cortisol (10).
The exact diagnosis of 11-[beta]-hydroxylase deficiency can be performed by the high basal levels of deoxycorticosterone and or 11-deoxycortisol
serums or tetrahydrometabolites, which might be found during a 24-hour urine test.
17-OHP is then converted to 11-deoxycortisol
DISCUSSION: Defective conversion of 17-hydroxyprogesterone to 11-deoxycortisol
accounts for more than 95% of cases of congenital adrenal hyperplasia.