Prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia by simultaneous radioimmunoassay of 21-deoxycortisol and 17-hydroxyprogesterone in amniotic fluid.
Amniotic fluid levels of 21-deoxycortisol (21-DOF) and 17-hydroxyprogesterone (17-OHP) were measured in 49 pregnancies, including 31 pregnancies at risk for CAH. The results were compared with those obtained by HLA typing and linkage analysis to a HLA DNA probe. The mean amniotic fluid levels in the control pregnancies were 0.28 nmol/L for 21-DOF and 4.1 nmol/L for 17-OHP. The levels were similar in early and midpregnancy for 21-DOF (0.29 vs. 0.27 nmol/L) and 17-OHP (3.4 vs. 4.2 nmol/L). The amniotic fluid 21-DOF level was 1.75 nmol/L in affected pregnancies, significantly higher than in the control pregnancies (mean, 0.28 nmol/L). The mean amniotic fluid 17-OHP level in the affected pregnancies (30.5 nmol/L) also was significantly higher than that in the control pregnancies (4.10 nmol/L). Simultaneous measurement of 21-DOF and 17-OHP levels in amniotic fluid from 10-18 weeks of gestation can be used for early diagnosis of congenital adrenal hyperplasia.
Gueux
B
B
Laboratoire de Biochimie, Hôpital Saint-Louis, Paris, France.
Fiet
J
J
Couillin
P
P
Raux-Demay
M C
MC
Mornet
E
E
Galons
H
H
Villette
J M
JM
Boue
J
J
Dreux
C
C
D015065:17-Hydroxycorticosteroids / Q000032:analysis*; D019326:17-alpha-Hydroxyprogesterone; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis*; D000653:Amniotic Fluid / Q000032:analysis*; D003350:Cortodoxone / Q000032:analysis*; D005260:Female; D006680:HLA Antigens / Q000032:analysis; D006801:Humans; D006908:Hydroxyprogesterones / Q000032:analysis*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D011863:Radioimmunoassay / Q000379:methods; D013250:Steroid Hydroxylases / Q000172:deficiency*
D015065:17-Hydroxycorticosteroids; D006680:HLA Antigens; D006908:Hydroxyprogesterones; C003556:21-deoxycortisol; D019326:17-alpha-Hydroxyprogesterone; D013250:Steroid Hydroxylases; D003350:Cortodoxone