These studies providing no rationale for either timing or conduct investigated diphallia (n = 8), PMDS, ovotesticular DSD (n = 4, respectively), CAH, transverse testicular ectopia(n = 3, respectively), gonadal dysgenesis (n = 2), 5-alpha reductase deficiency, 45,X/46, XY DSD, Antley-Bixler syndrome, PAIS, severe hypospadias and microphallus, sex chromosome mosaicism and Herlyn-Weber-Wunderlich syndrome (n = 1, respectively). The gene discussed is PSMA5; the disease is Antley-Bixler syndrome.