[Genetic counseling and prenatal diagnosis of adrenal hyperplasia caused by 21-hydroxylase deficiency].
The close linkage recently discovered between 21-hydroxylase deficiency and genes of the HLA system has given a new impulse to genetic studies of congenital adrenal hyperplasia. Segregation of the deficient genes can now be followed within the families affected, which considerably enlarges the possibilities of genetic counselling, while prenatal diagnosis is facilitated by modern methods of HLA typing of amniotic fluid cells and by modern techniques of amniotic steroid assays.
D019326:17-alpha-Hydroxyprogesterone; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000235:genetics; D000653:Amniotic Fluid / Q000032:analysis / Q000166:cytology; D005260:Female; D005817:Genetic Counseling; D008040:Genetic Linkage; D006680:HLA Antigens / Q000032:analysis / Q000235:genetics; D006801:Humans; D006908:Hydroxyprogesterones / Q000032:analysis; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D013255:Steroid 21-Hydroxylase / Q000235:genetics; D013250:Steroid Hydroxylases / Q000172:deficiency*
D006680:HLA Antigens; D006908:Hydroxyprogesterones; D019326:17-alpha-Hydroxyprogesterone; D013250:Steroid Hydroxylases; D013255:Steroid 21-Hydroxylase
Le conseil génétique et le diagnostic prénatal de l'hyperplasie des surrénales par déficit en 21-hydroxylase.