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Endocrinol Metab Clin North Am. 2001 Mar;30(1):1-13.

Prenatal treatment of congenital adrenal hyperplasia. The United States experience.

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  • 1Department of Pediatrics, Division of Pediatric Endocrinology, New York Presbyterian Hospital, Weill Medical College of Cornell University, New York, New York, USA.


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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