Inactivating mutations in the H6PD gene lead to a lowered supply of NADH, causing<unk><unk>  to catalyze the reaction from cortisol to<unk> . This is the most common manifestation of<unk> . It has been shown that<unk>  can be caused by mutations in the HSD11B1 gene as well, specifically mutations caused by K187N and R137C, affecting active site residue and disruption of salt bridges at the subunit interface of the dimer, respectively. In the K187N mutant, activity is abolished, and in the R137C mutant activity is greatly reduced, but not completely abolished.
Cortisone reductase deficiency
Isolated 17,20-lyase deficiency
17β-Hydroxysteroid dehydrogenase III deficiency
5α-Reductase 2 deficiency
Aromatase deficiency
Gonadotropin-releasing hormone insensitivity
Androgen-induced hermaphroditism
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency