Taking into consideration (1) the characteristics of the disorder of sexual development (DSD) phenotype of the patient, (2) his male karyotype, (3) the results of the hCG stimulation tests excluding defects in testosterone biosynthesis, (4) the normal AMH level excluding gonadal dysgenesis, and (5) normal LH and FSH levels excluding hypogonadotropic hypogonadism, we concluded that the patient suffered from PAIS. The gene discussed is PLOD1; the disease is disorder of sexual differentiation.