PLOD1 and congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency: 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