[21-deoxycortisol. A new marker of virilizing adrenal hyperplasia caused by 21-hydroxylase deficiency].
21-deoxycortisol is a steroid produced mainly by the adrenal gland. Its normal plasma baseline concentrations (0.03 to 0.30 n/ml) and its concentrations after tetracosactide injection (0.15 to 0.76 ng/ml) do not significantly vary with age, sex and phases of the menstrual cycle. 21-deoxycortisol was assayed in plasma by a specific radioimmunological method and its values were compared with those of 17-OH progesterone in heterozygous subjects with the classical and non-classical forms of 21-hydroxylase deficiency, and in the amniotic fluid of foetuses with this deficiency. Baseline concentrations of 21-deoxycortisol in the classical forms of 21-hydroxylase deficiency (n = 12; 55.36 to 186.6 ng/ml) and post-tetracosactide concentrations in non-classical late onset forms (n = 31; 4.04 to 47 ng/ml) were much higher than in normal subjects, thus making this steroid as sensitive as, or even more sensitive than 17-OH progesterone in diagnosing 21-hydroxylase deficiency. Post-tetracosactide assays of 21-deoxycortisol in 84 heterozygous subjects with 21-hydroxylase deficiency (0.70 to 5.40 ng/ml) enabled these subjects to be detected with a more than 90 percent sensitivity, which cannot be obtained with 17-OH progesterone assays. 21-deoxycortisol concentrations in the amniotic fluid of foetuses with 21-hydroxylase deficiency (n = 11; 0.391 to 0.930 ng/ml) were constantly superior to those observed in normal foetuses (n = 38; 0.034 to 0.221 ng/ml), so that the deficiency can be diagnosed with the steroid as easily as with 17-OH progesterone.
Fiet
J
J
Laboratoire de Biologie hormonale, Hôpital Saint-Louis, Paris.
Gueux
B
B
Raux-Demay
M C
MC
Kuttenn
F
F
Vexiau
P
P
Gourmelen
M
M
Couillin
P
P
Mornet
E
E
Villette
J M
JM
Brerault
J L
JL
D015065:17-Hydroxycorticosteroids / Q000032:analysis*; D019326:17-alpha-Hydroxyprogesterone; D000312:Adrenal Hyperplasia, Congenital / Q000097:blood*; D000328:Adult; D000653:Amniotic Fluid / Q000032:analysis; D015415:Biomarkers / Q000032:analysis / Q000097:blood; D002648:Child; D003350:Cortodoxone / Q000032:analysis* / Q000097:blood; D003366:Cosyntropin; D005260:Female; D006579:Heterozygote; D006801:Humans; D006908:Hydroxyprogesterones / Q000097:blood*; D007231:Infant, Newborn; D008297:Male; D006899:Mixed Function Oxygenases / Q000172:deficiency*; D011296:Prenatal Diagnosis; D011863:Radioimmunoassay
D015065:17-Hydroxycorticosteroids; D015415:Biomarkers; D006908:Hydroxyprogesterones; D003366:Cosyntropin; C003556:21-deoxycortisol; D019326:17-alpha-Hydroxyprogesterone; D006899:Mixed Function Oxygenases; D003350:Cortodoxone
Le 21-désoxycortisol. Un nouveau marqueur de l'hyperandrogénie surrénalienne par déficit en 21-hydroxylase.