In our study, 90 % patients with PAIS, 100% of patients with 5-alpha-reductase deficiency and 90 % of those with anatomical defects had normal AMH levels, which was consistent with the results of Szarras-Czapnik et al. The gene discussed is AMH; the disease is 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency.