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Congenital adrenal hyperplasia

  • Alternative Names

    Adrenogenital syndrome; 21-hydroxylase deficiency


    Prevention

    Parents with a family history of congenital adrenal hyperplasia (of any type) or a child who has the condition should consider genetic counseling.

    Prenatal diagnosis is available for some forms of congenital adrenal hyperplasia. Diagnosis is made in the first trimester by chorionic villus sampling. Diagnosis in the second trimester is made by measuring hormones such as 17-hydroxyprogesterone in the amniotic fluid.

    A newborn screening test is available for the most common form of congenital adrenal hyperplasia. It can be done on heelstick blood (as part of the routine screenings done on newborns). This test is currently performed in many states. Ask your doctor if it is done in your state.


    References

    White PC. Congenital adrenal hyperplasia and related disorders. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 577.