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Congenital Adrenal Hyperplasia
What are the symptoms?
The clinical presentation of 21 hydroxylase deficiency depends on the severity of the enzyme defect and the sex of the child. Boys with a severe defect will present at about ten days of age with vomiting, dehydration, and weight loss - the salt-losing crisis. Girls with a severe defect will have ambiguous genitalia at birth due to the effect of androgen over production in the fetus. Unless treated promptly these girls will also develop a salt-losing crisis. Boys and girls with a mild defect will present later in childhood with signs of androgen excess - tall stature, enlargement of penis or clitoris, and pubic hair - but no manifest salt loss.
Background
| How is it treated? 
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