Two novel <i><scp>HSD</scp>3B2</i> missense mutations with diverse residual enzymatic activities for Δ5‐steroids

Abstract

We identified two novel missense mutations of HSD3B2 that resulted in unbalanced residual enzymatic activities for Δ5-steroids. As a potential novel mechanism, we propose that the mutations, which differently affect the activity towards different substrates, the effects of these mutations provide novel insights into the pathophysiology of 3β-HSDD.