46,XX sex reversal 5

A 46,XX sex reversal that is characterized by genital virilization in 46,XX individuals, associated with congenital heart disease and variable somatic anomalies including blepharophimosis-ptosis-epicanthus inversus syndrome and congenital diaphragmatic hernia

A 46,XX sex reversal that is characterized by genital virilization in 46,XX individuals, associated with congenital heart disease and variable somatic anomalies including blepharophimosis-ptosis-epicanthus inversus syndrome and congenital diaphragmatic hernia and that has_material_basis_in heterozygous mutation in the NR2F2 gene on chromosome 15q26.

Signs and symptoms

• Ambiguous genitalia
• Increased serum testosterone level
• Secundum atrial septal defect
• Ventricular septal defect
• Aplasia of the left hemidiaphragm
• Urogenital sinus anomaly
• Hypoplastic left ventricle