Conditions / Genetic
46,XY sex reversal 9
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 heterozygous mutation in the ZFPM2 gene on chromosome 8q
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 heterozygous mutation in the ZFPM2 gene on chromosome 8q23.1.
Signs and symptoms
- Sex reversal
- Gonadal dysgenesis
- Ambiguous genitalia
- Fused labia minora
- Autistic behavior
Also known as: 46,XY sex reversal, ZFPM2-related; SRXY9