Abbreviations: L, left; R, right; RVH, right ventricular hypertrophy; US, ultrasound; T, testosterone; 17-OHP, 17-hydroxyprogesterone; LH, luteinizing hormone; FSH, follicle-stimulating hormone; ASD, atrial septal defect; MRI, magnetic resonance imaging; BPES, blepharophimosis ptosis epicanthus inversus syndrome; AMH, anti-Müllerian hormone; VSD, ventricular septal defect; N/A, not available. Individual 1 had a male-typical phenotype and high testosterone consistent with testicular tissue; individual 2 had high AMH and inhibin B and high testosterone consistent with testicular tissue; individual 3 had high testosterone and histological evidence of testicular tissue. In all situations, biochemical and genetic testing for other causes of virilization such as congenital adrenal hyperplasia (e.g., 17-OHP) were negative.