Molecular genetic analysis role in diagnosis of primary amenorrhea patients

Abstract

Twenty one cases of primary amenorrhea, with poor secondary sexual characters, were studied clinically and genetically to assign SRY gene defect incidence. Different primary amenorrhea categories were diagnosed but only one case shows abnormally positive SRY gene in a 46 XX intersex patient. This case shows defected maleness internal genitalia and variable degree of external genitalia development. However this single case represent an incidence rate of (0.047(4.7%)). Molecular analysis shows accurate and applicable investigation, and recommended to enrolled as a routine investigation in diagnosis of all cases of intersexual risk.