Prenatal Therapy in Congenital Adrenal Hyperplasia Attempted Prevention of Abnormal External Genital Masculinization by Pharmacologic Suppression of the Fetal Adrenal Gland in Utero

In severe congenital adrenal hyperplasia (CAH), the adrenal androgens secreted by the fetal adrenal gland are thought to masculinize the external genitalia of female fetuses between 10 and 16 weeks gestation.’-’ This is the period when the testes normally masculinize the bipotential genital tubercle and adjacent regions in male f e t ~ s e s . ~ ” Thus, suppression of the fetal pituitary-adrenal axis with a glucocorticoid compound during gestational weeks 10-16 should lead to prevention of ambiguous external genitalia in female fetuses with the severe form of CAH. However, prenatal diagnosis of CAH due to 21-hydroxylase deficiency (which is based on detection of elevated amniotic fluid 17-hydroxyprogesterone and adrenal androgen concentrations, or is performed by linkage analysis and HLA typing of cultured amniotic fluid cell^)'^" cannot, a t present, be completed before 16-17 weeks

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