Conditions / Genetic

46,XX sex reversal 4

info · Genetic

A 46,XX sex reversal that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3.

Signs and symptoms

  • Ovotestis
  • Gonadal dysgenesis
  • Ambiguous genitalia
  • Penoscrotal hypospadias
  • Micropenis
  • Fused labia majora
  • Retractile testis
  • Clitoral hypertrophy

Also known as: SRXX4