Conditions / Genetic
46,XY sex reversal 2
info · Genetic
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous duplication of the NR0B1 gene on chromosome X
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous duplication of the NR0B1 gene on chromosome Xp21.2.
Signs and symptoms
- Sex reversal
Also known as: 46,XY sex reversal, DAX1-related; 46XY sex reversal 2, dosage-sensitive; SRXY2; dosage-sensitive sex reversal