[Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase enzyme deficiency].
Prenatal diagnosis of the "classical" forms of congenital adrenal hyperplasia (CAH) which is a result of 21-hydroxylase (21-OH) deficiency either complete, with salt-wasting or incomplete without salt wasting, is performed in two ways: by measuring concentration of 17-hydroxyprogesterone (17-OHP) and androstendione (delta 4) in amniotic fluid and by HLA typing of fetal cells from amniotic fluid. Having ones own normal values is the basic condition for the safe prenatal diagnosis of CAH 21-OH deficiency by measuring steroid concentration in amniotic fluid. Normal concentrations of 17-OHP in amniotic fluid achieved by amniocentesis in 85 pregnant women from 16-23 gestation week have been measured, as well as concentrations of delta 4 in 66 pregnant women in the same period of gestation. It has been proved that there are no differences between the concentrations of delta 4 in amniotic fluid regarding the sex. As far as 17-OHP is concerned, the same was confirmed earlier. The results of 9 prenatal diagnosis in 8 families, having already one child with "classical" form of CAH with salt-wasting, have been presented. It was achieved by combination of two methods: by measuring concentration of 17-OHP and delta 4 in amniotic fluid and HLA typing of fetal cells from amniotic fluid. In 8 fetuses at risk the birth of healthy children was correctly predicted, which was confirmed after the birth in three cases by HLA typing and measuring concentration of 17-OHP and delta 4 and from the blood of newborn babies.(ABSTRACT TRUNCATED AT 250 WORDS)
Dumić
M
M
Ille
J
J
Brkljacić
L
L
Plavsić
V
V
Drazancić
A
A
Banicević
M
M
Radmanović
S
S
Filipović
B
B
Suchanek
E
E
Kastelan
A
A
D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics; D000653:Amniotic Fluid / Q000166:cytology / Q000201:enzymology; D005260:Female; D006680:HLA Antigens / Q000032:analysis; D006801:Humans; D007621:Karyotyping; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013255:Steroid 21-Hydroxylase / Q000032:analysis; D013250:Steroid Hydroxylases / Q000172:deficiency*
D006680:HLA Antigens; D013250:Steroid Hydroxylases; D013255:Steroid 21-Hydroxylase
Prenatalna dijagnostika kongenitalne adrenalne hiperplazije zbog nedostatka enzima 21-hidroksilaze.