Combined homozygous 21 hydroxylase with heterozygous P450 oxidoreductase mutation in a Saudi boy presented with hypertension.

Abstract excerpt

Congenital adrenal hyperplasia (CAH) comprises a group of inherited autosomal recessive disorders characterised by defective cortisol biosynthesis, compensatory increases in corticotrophin secretion and adrenocortical hyperplasia. The characteristics of the biochemical and clinical phenotype depend on the specific enzymatic defect. 21-hydroxylase deficiency is estimated to account for 90%-95% of all CAH cases....

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