17alpha-hydroxylase/17,20-Lyase deficiency due to novel compound heterozygote mutations: treatment for tall stature in a female with male pseudohermaphroditism and spontaneous puberty in her affected sister.

Abstract excerpt

We report on two German sisters with deficiency in the 17alpha-hydroxylase/17,20-lyase enzyme corresponding to typical hormone profile. A paternal nonsense mutation R388X in exon 7 and a maternal missense mutation P428L in exon 8 of the CYP17 gene have been identified in both girls. Residual in vitro 17alpha-hydroxylase activity for the conversion of [3H]-Preg to [3H]-17OH-Preg has been detected in transfected...

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