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CLINICAL PRESENTATION of 21 Hydroxylase deficiency
The clinical spectrum of disease ranges from the most severe to mild forms,depending on the degree of 21hydroxylase deficiency.
Three main clinical phenotypes have been described:
- classic salt losing, (0-2) percent 21hydroxylase enzyme activity
- classic non salt losing (simple virilizing)
- nonclassic or lateonset(20 to 50 percent 21hydroxylaseenzyme activity)
