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5 alpha steroid reductase 2 deficiency
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An autosomal recessive inherited disorder caused by mutations in the srd5a2 gene. It is characterized by deficiency of the enzyme steroid 5-alpha reductase 2 that catalyzes the conversion of testosterone to dihydrotestosterone. It results in disruption of the formation of male genitalia. Patients present with pseudohermaphroditism.
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