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Mutations of the CYP17A1 gene cause 17α-hydroxylase deficiency (17OHD) resulting in 46,XY disorder of sex development, hypertension, hypokalemia and absent pubertal development. It is a rare, autosomal recessive form of congenital adrenal hyperplasia (CAH).

17α-Hydroxylase Deficiency Diagnosed in Early Infancy Caused by a Novel Mutation of the <b><i>CYP17A1</i></b> Gene