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Adrenogenital syndrome; 21-hydroxylase deficiency
Girls will usually have normal female reproductive organs (ovaries, uterus, and fallopian tubes). They may also have the following changes:
Boys won't have any obvious problems at birth. However, they may appear to enter puberty as early as 2 - 3 years of age. Changes may include:
Both boys and girls will be tall as children but much shorter than normal as adults.
Some forms of congenital adrenal hyperplasia are more severe and cause adrenal crisis in the newborn due to a loss of salt. Newborns with these forms develop severe symptoms shortly after birth, including:
Genetic tests can help diagnose, confirm, and manage the disease.
This disease may also affect the results of the following tests:
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.
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