17alpha-hydroxylase deficiency : biochemical and molecular findings in two sisters and their family.

Objective: To search for molecular changes in two Argentinian sisters with a clinical and biochemical diagnosis of 17alpha-hydroxylase deficiency.

Subjects: Both patients had 46 XX karyotype, with sexual infantilism, primary amenorrhea, and hypertension. Other member of the first degree family did not have this deficiency.