Prenatal treatment of congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency.
In an attempt to prevent in utero virilization of female fetuses with 21-hydroxylase deficiency, six mothers at risk were treated with either hydrocortisone (n = 1) or dexamethasone (n = 5) in early pregnancy. Treatment was continued to term in the two pregnancies in which the diagnosis of an affected female fetus was confirmed. In patient 1 (hydrocortisone treatment) fetal adrenal suppression was only partial but the external genitalia were only slightly abnormal. In patient 2 (dexamethasone treatment) fetal adrenal suppression was achieved and the external genitalia were normal at birth. These encouraging results open a new prospect for treating congenital adrenal hyperplasia in utero.
D019326:17-alpha-Hydroxyprogesterone; D000312:Adrenal Hyperplasia, Congenital / Q000188:drug therapy*; D000328:Adult; D000653:Amniotic Fluid / Q000032:analysis; D003907:Dexamethasone / Q000627:therapeutic use; D005260:Female; D006801:Humans; D006854:Hydrocortisone / Q000627:therapeutic use; D006908:Hydroxyprogesterones / Q000097:blood; D007231:Infant, Newborn; D011247:Pregnancy; D011295:Prenatal Care; D013250:Steroid Hydroxylases / Q000172:deficiency*
D006908:Hydroxyprogesterones; D019326:17-alpha-Hydroxyprogesterone; D003907:Dexamethasone; D013250:Steroid Hydroxylases; D006854:Hydrocortisone