Conditions / Genetic
46,XY sex reversal 6
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 MAP3K1 gene on chromosome 5
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 MAP3K1 gene on chromosome 5q11.2.
Signs and symptoms
- Gonadal dysgenesis
- Sex reversal
- Chordee
- Sparse axillary hair
- Hypospadias
- Hirsutism
- Dysgerminoma
- Gonadoblastoma
- Clitoral hypertrophy
Also known as: 46,XY gonadal dysgenesis, partial or complete, MAP3K1-related; 46,XY sex reversal, partial or complete, MAP3K1-related; SRXY6