The 17α-hydroxylase enzyme is encoded by the CYP17A1 gene and it is required for the synthesis of cortisol and sex steroids. The affected females with 17OHD usually present with primary amenorrhea and delayed puberty, which are associated with hypertension and hypokalemia while male patients might show female external genitalia, pseudohermaphroditism, or variable degrees of ambiguous genitalia with intra-abdominal testes in addition to hypertension and hypokalemia as well. Here, CYP17A1 is linked to Primary amenorrhea.