Prenatal treatment of congenital adrenal hyperplasia. The United States experience.
Based on the author's experience, prenatal diagnosis and treatment of 21-hydroxylase deficiency is safe and effective in significantly reducing or eliminating virilization in the affected female, and the same outcome seems to be true in the treatment of 11 beta-hydroxylase deficiency. Prenatal treatment spares the newborn female the consequences of genital ambiguity, genital surgery, sex misassignment, and gender confusion. Of the monogenic disorders, steroid 21- and 11 beta-hydroxylase deficiency are two of the few in which prenatal treatment is effective and influences postnatal life.
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Department of Pediatrics, Division of Pediatric Endocrinology, New York Presbyterian Hospital, Weill Medical College of Cornell University, New York, New York, USA.
D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000188:drug therapy* / Q000201:enzymology; D005260:Female; D005315:Fetal Diseases / Q000188:drug therapy*; D005938:Glucocorticoids / Q000008:administration & dosage / Q000009:adverse effects / Q000627:therapeutic use; D006801:Humans; D008297:Male; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013252:Steroid 11-beta-Hydroxylase / Q000235:genetics; D013255:Steroid 21-Hydroxylase / Q000235:genetics; D014481:United States
D005938:Glucocorticoids; D013255:Steroid 21-Hydroxylase; D013252:Steroid 11-beta-Hydroxylase