Comparison of basal and adrenocorticotropin-stimulated plasma 21-deoxycortisol and 17-hydroxyprogesterone values as biological markers of late-onset adrenal hyperplasia.
Plasma 21-deoxycortisol (21-DOF) and 17-hydroxyprogesterone (17-OHP) concentrations were assayed before (basal) and 1 h after ACTH stimulation in 4 groups of normal subjects (35 follicular phase women, 22 luteal phase women, 33 adult men, and 15 prepubertal children) and in a group of 31 patients with the late-onset form of congenital adrenal hyperplasia (LOCAH) due to 21-hydroxylase deficiency as well as in 31 LOCAH) heterozygotes. The mean basal plasma 21-DOF concentrations in each of the 4 groups of normal subjects were between 8 ng/dL (0.23 nmol/L) and 11 ng/dL (0.31 nmol/L), and they increased significantly after ACTH stimulation to between 36 ng/dL (1.04 nmol/L) and 44 ng/dL (1.27 nmol/L). There were no differences in basal or ACTH-stimulated plasma 21-DOF levels in these 4 groups, whereas their basal and post-ACTH plasma 17-OHP levels did vary. Among the LOCAH patients, 83.8% had basal plasma 21-DOF levels and 61.2% had basal plasma 17-OHP levels higher than the highest basal 21-DOF [30 ng/dL (0.86 nmol/L)] and 17-OHP [450 ng/dL (13.61 nmol/L)] concentrations in the normal subjects, and all individual 21-DOF and 17-OHP levels after ACTH stimulation [greater than or equal to 404 ng/dL (11.67 nmol/L) and greater than or equal to 1040 ng/dL (31.47 nmol/L), respectively] were markedly higher than the highest 21-DOF [76 ng/dL (2.19 nmol/L)] and 17-OHP [580 ng/dL (17.55 nmol/L)] levels in the normal subjects. The mean post-ACTH/basal plasma level ratios among the LOCAH patients were 19.75 for 21-DOF and 8.03 for 17-OHP. In LOCAH heterozygotes, basal 21-DOF values were higher than normal in 48.3%, and post-ACTH values were higher than normal in 93.5% of the cases. In contrast, basal plasma 17-OHP levels were similar in LOCAH heterozygotes and normal subjects, and only 16.1% of the LOCAH heterozygotes had post-ACTH plasma 17-OHP levels higher than the highest normal value. If sex and phase of the menstrual cycle are taken into account, along with the incremental responses (post-ACTH minus baseline value) of plasma 21-DOF and 17-OHP, to compare LOCAH heterozygotes and normal subjects, the discriminating power for detection of heterozygocity was somewhat increased for 21-DOF (to 100%) and appreciably increased for 17-OHP (to 30%).(ABSTRACT TRUNCATED AT 400 WORDS)
Fiet
J
J
Laboratoire de Biochimie, Hôpital Saint-Louis, Paris, France.
Gueux
B
B
Gourmelen
M
M
Kuttenn
F
F
Vexiau
P
P
Couillin
P
P
Pham-Huu-Trung
M T
MT
Villette
J M
JM
Raux-Demay
M C
MC
Galons
H
H
D015065:17-Hydroxycorticosteroids / Q000097:blood*; D019326:17-alpha-Hydroxyprogesterone; D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000097:blood* / Q000175:diagnosis / Q000235:genetics; D000324:Adrenocorticotropic Hormone; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003350:Cortodoxone / Q000097:blood*; D005260:Female; D006680:HLA Antigens / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D006908:Hydroxyprogesterones / Q000097:blood*; D007223:Infant; D008297:Male; D008597:Menstrual Cycle; D008875:Middle Aged; D012016:Reference Values
D015065:17-Hydroxycorticosteroids; D006680:HLA Antigens; D006908:Hydroxyprogesterones; C003556:21-deoxycortisol; D019326:17-alpha-Hydroxyprogesterone; D000324:Adrenocorticotropic Hormone; D003350:Cortodoxone