Hexose-6-phosphate dehydrogenase deficiency
Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the h6pd gene.
Biochemistry[edit | edit source]
This enzyme is necessary to generate nadph, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol.
Clinical features[edit | edit source]
The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta hsd type 1 deficiency.
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