17-hydroxylase/17,20-lyase deficiency due to a R96Q mutation causing hypertension and poor breast development
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Combined17α-hydroxylase/17,20-lyase deficiency is a rare cause of congenital adrenal hyperplasia and hypogonadism. Hypertension and hypokalemia are essential presenting features. We report an Arab family with four affected XX siblings. The eldest presented wi... ...
