11β-hydroxysteroid dehydrogenase deficiency

11β-hydroxysteroid dehydrogenase deficiency
11β-hy·droxy·ster·oid de·hy·dro·gen·ase de·fi·cien·cy (hi-drok″se-sterґoid de-hiґdro-jən-ās) deficiency of activity of either of the isoforms of 11β-hydroxysteroid dehydrogenase. Deficiency of the type 1 isozyme is caused by mutations involving two genes and three alleles and gives rise to a phenotype resembling polycystic ovary syndrome. Deficiency of the type 2 isozyme results in apparent mineralocorticoid excess (q.v.).

Medical dictionary. 2011.

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