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Isolated 17,20-lyase deficiency is a rare disorder caused by genetic mutations in the gene CYP17A1, while not affecting 17α-hydroxylase. [ 2 ] [ 4 ] [ 6 ] [ 7 ] Isolated 17,20 lyase deficiency is a rare disease with only a small number of confirmed reports due to mutations in the CYP17A1 gene.
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