Congenital Adrenal Hyperplasia due to 17-Alpha-Hydroxylase Deficiency (CYP17A1)

Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a rare autosomal recessive disease which is caused by pathogenic variants in the gene CYP17A1. It does not appear to have an ethnic predisposition. Clinical features include ambiguous genitalia at birth in both males and females and a lack of pubertal development; additionally, males exhibit under-virilization and females do not menstruate. Both hypertension and potassium deficiency may be present. Life expectancy is not decreased, and no genotype-phenotype correlation has been noted.

For information about carrier frequency and residual risk, please see the residual risk table.