A common germline missense-encoding polymorphism in HSD3B1, called the adrenal-permissive allele, facilitates androgen synthesis from adrenal precursors via increased 3β-hydroxysteroid dehydrogenase 1 (3βHSD1). Here, the authors focus on mechanistic and clinical investigations of 3βHSD1 and the clinical consequences and potential utility of detecting adrenal-permissive allele inheritance.
- Pedro F. S. Freitas
- Alireza Abdshah
- Nima Sharifi
