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).
aside from being able to detect potassium, sodium, iron and glucose, the analyser should be able to test for the following: bun, ldh, total protein, 11-deoxycortisol
, 17-a-hydroxyprogesterone, 25-hydroxy vitamin d, 25-hydroxy vitamin d (total), acid phosphatase (prostatic), acid phosphatase (total), acth, afp, alt, albumin, aldosterone, alkaline phosphatase, androstenedione, anti-thyroglobulin (anti-tg), anti-thyroperoxidase (anti-tpo), anti-streptolysin o (aso), apolipoprotein a-i, apolipoprotein b, ast, bilirubin direct, bilirubin
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.