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3-beta-hydroxysteroid dehydrogenase deficiency

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Congenital adrenal hyperplasia due to presumed mutation(s) in the hsd3b2 gene, which results in decreased activity of the enzyme 3-beta-hydroxysteroid dehydrogenase. The clinical manifestations of the deficiency are dependent on the degree of reduction in enzymatic activity: 46,xy infants may have incomplete development of the genitalia, while 46,xx infants may have virilization.


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