cortisone reductase deficiency

Pathology

• activation of cortisone to cortisol does not occur
• adrenocorticotropin-mediated androgen excess

Genetics

• caused by defects in the HSD11B1 & G1DH/6PGL genes

Clinical manifestations

• phenotype resembles polycystic ovary syndrome

More general terms

• enzyme deficiency

Database

• OMIM: https://mirror.omim.org/entry/604931