46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
ORPHA:752· ICD-10 E29.1
Definition
A rare difference of sex development characterized by 17-beta hydroxysteroid dehydrogenase 3 deficiency that affects individuals with a 46,XY karyotype leading to underandrogenization of the genitalia.
- Prevalence
- 1-9 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Neonatal