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Mutations in the gene encoding 110-hydroxylase (CYPI]BJ) are the second most common cause of congenital adrenal hyperplasia (CAH), a disorder characterized by adrenal insufficiency and virilization of female external genitalia.

Donor Splice Mutation in the 11β-Hydroxylase (CYP11B1) Gene Resulting in Sex Reversal: A Case Report and Review of the Literature