Abstract
Conditions that present atypical genital and / or gonadal development leading to a disagreement among genetic, gonadal and phenotypic sex are classified as Disorders of Sex Development (DSD). Several genes are known to act in the pathways of sex determination and differentiation, such as: WT1, SRY, NR5A1, DMRT1, SOX9, GATA4, NR0B1, HAM, AR, SRD5A2, HSD17B3, among others. Recently, three i…