46,XY sex reversal 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 homozygous or compound heterozygous mutation in the CBX2

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 homozygous or compound heterozygous mutation in the CBX2 gene on chromosome 17q25.3.

Signs and symptoms

• Sex reversal
• Elevated circulating follicle stimulating hormone level
• Abnormal female external genitalia morphology
• Abnormal circulating luteinizing hormone concentration
• Abnormality of circulating cortisol level

Also known as: 46,XY gonadal dysgenesis, complete, CBX2-related; 46,XY sex reversal, CBX2-related; SRXY5; disorder of sex development, 46,XY, CBX2-related; sex reversal, XY, CBX2-related