46,XY partial gonadal dysgenesis with minifascicular neuropathy may be caused by mutation in the desert hedgehog gene (DHH; MIM.605423).
Mutations in the DHH gene have also been found in patients with 46,XY complete gonadal dysgenesis who do not have minifascicular neuropathy (DHH-associated gonadal dysgenesis) (MIM.233420).
See also
- 46,XY partial gonadal dysgenesis
- 46,XY pure gonadal dysgenesis