Phenotypic variation in a Chinese family with 46,XY and 46,XX 17α-hydroxylase deficiency.

Abstract excerpt

BACKGROUND: 17α-hydroxylase deficiency is a rare autosomal recessive disorder characterized by sexual infantilism, amenorrhea, hypertension and hypokalemia, which is caused by mutations in the CYP17A1 gene. To date, more than 50 mutations in this gene have been described. METHODS: The clinical features and biochemical data of a pair of 46,XY and 46,XX Chinese siblings with 17α-hydroxylase deficiency from...

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