3-beta hsd deficiency
3-beta hsd deficiency - 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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Source: Data courtesy of the U.S. National Library of Medicine. Since the data might have changed, please query MeSH on 3-beta hsd deficiency for any updates.