Conditions / Genetic
46,XY sex reversal 10
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 deletion of a region upstream of the SOX9 g
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 deletion of a region upstream of the SOX9 gene on chromosome 17q24.
Signs and symptoms
- Sex reversal
- Ovotestis
- Micropenis
- Dysgerminoma
- Gonadal dysgenesis
- Perineal hypospadias
- Dysplastic testis
- Small scrotum
- Gonadoblastoma
- Bifid scrotum
Also known as: SRXY10; chromosome 17q24 deletion syndrome