46,XY karyotype with gonadal development disorders (pure or partial gonadal dysgenesis, ovotestiscular DSD, ovarian DSD, vanishing testis)46,XY karyotype and disturbances of testosterone synthesis (StAR deficiency, 3β-hydroxysteroid dehydrogenase deficiency, 17α-hydroxylase/17,20-lyase deficiency, 17β-hydroxysteroid dehydrogenase deficiency, 5α-reductase deficiency, POR deficiency, AMH mutation, LHCGR mutation and insensitivity to LH)46,XY karyotype and disturbances of testosterone action (complete androgen insensitivity syndrome)46,XY karyotype and complex malformation syndromes. The gene discussed is PLOD1; the disease is androgen insensitivity syndrome.